Canonical Allele Identifier: CA153244584
Gene: PMS2 HGNC NCBI

Linked Data

dbSNP Id: rs1057057747
gnomAD v3: 7-6002015-T-TAA
gnomAD v4: 7-6002015-T-TAA
MyVariant Identifiers: chr7:g.6041646_6041647insAA (hg19) chr7:g.6002015_6002016insAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.6002020_6002021dup , CM000669.2:g.6002020_6002021dup GRCh38
NC_000007.13:g.6041651_6041652dup , CM000669.1:g.6041651_6041652dup GRCh37
NC_000007.12:g.6008177_6008178dup NCBI36
NG_008466.1:g.12090_12091dup , LRG_161:g.12090_12091dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*131+436_*131+437dup ENSP00000514615.2:n.*131+436_*131+437dup
ENST00000699840.2:c.537+436_537+437dup ENSP00000514638.2:n.537+436_537+437dup
ENST00000699930.2:c.537+436_537+437dup ENSP00000514695.2:n.537+436_537+437dup
ENST00000406569.8:c.537+436_537+437dup ENSP00000514464.1:n.537+436_537+437dup
ENST00000644110.2:c.*131+436_*131+437dup ENSP00000496392.2:n.*131+436_*131+437dup
ENST00000699752.1:c.537+436_537+437dup ENSP00000514561.1:n.537+436_537+437dup
ENST00000699753.1:c.132+436_132+437dup ENSP00000514562.1:n.132+436_132+437dup
ENST00000699754.1:c.537+436_537+437dup ENSP00000514563.1:n.537+436_537+437dup
ENST00000699755.1:c.132+436_132+437dup ENSP00000514564.1:n.132+436_132+437dup
ENST00000699756.1:c.*124+436_*124+437dup ENSP00000514565.1:n.*124+436_*124+437dup
ENST00000699757.1:c.35+1955_35+1956dup ENSP00000514566.1:n.35+1955_35+1956dup
ENST00000699758.1:c.250+1955_250+1956dup ENSP00000514567.1:n.250+1955_250+1956dup
ENST00000699759.1:n.609+436_609+437dup
ENST00000699760.1:c.219+436_219+437dup ENSP00000514568.1:n.219+436_219+437dup
ENST00000699761.1:c.132+436_132+437dup ENSP00000514569.1:n.132+436_132+437dup
ENST00000699762.1:c.132+436_132+437dup ENSP00000514570.1:n.132+436_132+437dup
ENST00000699763.1:c.132+436_132+437dup ENSP00000514571.1:n.132+436_132+437dup
ENST00000699764.1:c.537+436_537+437dup ENSP00000514572.1:n.537+436_537+437dup
ENST00000699765.1:c.219+436_219+437dup ENSP00000514573.1:n.219+436_219+437dup
ENST00000699766.1:c.537+436_537+437dup ENSP00000514574.1:n.537+436_537+437dup
ENST00000699767.1:c.537+436_537+437dup ENSP00000514575.1:n.537+436_537+437dup
ENST00000699768.1:c.537+436_537+437dup ENSP00000514576.1:n.537+436_537+437dup
ENST00000699769.1:n.617+436_617+437dup
ENST00000699811.1:c.132+436_132+437dup ENSP00000514614.1:n.132+436_132+437dup
ENST00000699813.1:n.699+436_699+437dup
ENST00000699814.1:c.358+436_358+437dup
ENST00000699815.1:c.132+436_132+437dup ENSP00000514616.1:n.132+436_132+437dup
ENST00000699816.1:c.132+436_132+437dup ENSP00000514617.1:n.132+436_132+437dup
ENST00000699817.1:c.*131+436_*131+437dup ENSP00000514618.1:n.*131+436_*131+437dup
ENST00000699818.1:c.132+436_132+437dup ENSP00000514619.1:n.132+436_132+437dup
ENST00000699819.1:c.119+436_119+437dup ENSP00000514620.1:n.119+436_119+437dup
ENST00000699820.1:c.537+436_537+437dup ENSP00000514621.1:n.537+436_537+437dup
ENST00000699821.1:c.132+436_132+437dup ENSP00000514622.1:n.132+436_132+437dup
ENST00000699822.1:c.132+436_132+437dup ENSP00000514623.1:n.132+436_132+437dup
ENST00000699823.1:c.132+436_132+437dup ENSP00000514624.1:n.132+436_132+437dup
ENST00000699824.1:c.537+436_537+437dup ENSP00000514625.1:n.537+436_537+437dup
ENST00000699825.1:c.132+436_132+437dup ENSP00000514626.1:n.132+436_132+437dup
ENST00000699826.1:c.132+436_132+437dup ENSP00000514627.1:n.132+436_132+437dup
ENST00000699827.1:c.537+436_537+437dup ENSP00000514628.1:n.537+436_537+437dup
ENST00000699828.1:c.537+436_537+437dup ENSP00000514629.1:n.537+436_537+437dup
ENST00000699829.1:c.132+436_132+437dup ENSP00000514630.1:n.132+436_132+437dup
ENST00000699830.1:c.537+436_537+437dup ENSP00000514631.1:n.537+436_537+437dup
ENST00000699831.1:n.498+436_498+437dup
ENST00000699832.1:n.820+436_820+437dup
ENST00000699833.1:n.617+436_617+437dup
ENST00000699834.1:n.743+436_743+437dup
ENST00000699837.1:c.132+436_132+437dup ENSP00000514635.1:n.132+436_132+437dup
ENST00000699838.1:c.*437+436_*437+437dup ENSP00000514636.1:n.*437+436_*437+437dup
ENST00000699839.1:c.723+436_723+437dup ENSP00000514637.1:n.723+436_723+437dup
ENST00000699840.1:c.537+436_537+437dup ENSP00000514638.1:n.537+436_537+437dup
ENST00000699916.1:c.137+431_137+432dup ENSP00000514684.1:n.137+431_137+432dup
ENST00000699917.1:c.537+436_537+437dup ENSP00000514685.1:n.537+436_537+437dup
ENST00000699918.1:c.537+436_537+437dup ENSP00000514686.1:n.537+436_537+437dup
ENST00000699919.1:c.537+436_537+437dup ENSP00000514687.1:n.537+436_537+437dup
ENST00000699920.1:c.537+436_537+437dup ENSP00000514688.1:n.537+436_537+437dup
ENST00000699928.1:c.537+436_537+437dup ENSP00000514693.1:n.537+436_537+437dup
ENST00000699929.1:c.537+436_537+437dup ENSP00000514694.1:n.537+436_537+437dup
ENST00000699930.1:c.537+436_537+437dup ENSP00000514695.1:n.537+436_537+437dup
ENST00000699931.1:n.648+436_648+437dup
ENST00000699932.1:c.537+436_537+437dup ENSP00000514696.1:n.537+436_537+437dup
ENST00000699933.1:n.617+436_617+437dup
ENST00000699951.1:c.537+436_537+437dup ENSP00000514706.1:n.537+436_537+437dup
ENST00000699952.1:c.537+436_537+437dup ENSP00000514707.1:n.537+436_537+437dup
ENST00000699953.1:c.537+436_537+437dup ENSP00000514708.1:n.537+436_537+437dup
ENST00000699954.1:c.537+436_537+437dup ENSP00000514709.1:n.537+436_537+437dup
ENST00000265849.12:c.537+436_537+437dup MANE Select ENSP00000265849.7:n.537+436_537+437dup
ENST00000642292.1:c.132+436_132+437dup ENSP00000495524.1:n.132+436_132+437dup
ENST00000642456.1:c.132+436_132+437dup ENSP00000493814.1:n.132+436_132+437dup
ENST00000643595.1:c.537+436_537+437dup ENSP00000494497.1:n.537+436_537+437dup
ENST00000644110.1:c.219+436_219+437dup ENSP00000496392.1:n.219+436_219+437dup
ENST00000265849.11:c.537+436_537+437dup ENSP00000265849.7:n.537+436_537+437dup
ENST00000380416.5:n.1052_1053dup
ENST00000382321.5:c.537+436_537+437dup ENSP00000371758.4:n.537+436_537+437dup
ENST00000406569.7:n.537+436_537+437dup
ENST00000441476.6:c.219+436_219+437dup ENSP00000392843.2:n.219+436_219+437dup
ENST00000469652.1:n.62+3976_62+3977dup
NM_000535.5:c.537+436_537+437dup , LRG_161t1:c.537+436_537+437dup NP_000526.1:n.537+436_537+437dup
NR_003085.2:n.619+436_619+437dup
XM_006715742.2:c.531+436_531+437dup XP_006715805.1:n.531+436_531+437dup
XM_011515427.1:c.582+436_582+437dup XP_011513729.1:n.582+436_582+437dup
XM_011515428.1:c.582+436_582+437dup XP_011513730.1:n.582+436_582+437dup
XM_011515429.1:c.219+436_219+437dup XP_011513731.1:n.219+436_219+437dup
XM_011515430.1:c.219+436_219+437dup XP_011513732.1:n.219+436_219+437dup
NM_000535.6:c.537+436_537+437dup NP_000526.2:n.537+436_537+437dup
NM_001322003.1:c.132+436_132+437dup NP_001308932.1:n.132+436_132+437dup
NM_001322004.1:c.132+436_132+437dup NP_001308933.1:n.132+436_132+437dup
NM_001322005.1:c.132+436_132+437dup NP_001308934.1:n.132+436_132+437dup
NM_001322006.1:c.537+436_537+437dup NP_001308935.1:n.537+436_537+437dup
NM_001322007.1:c.219+436_219+437dup NP_001308936.1:n.219+436_219+437dup
NM_001322008.1:c.219+436_219+437dup NP_001308937.1:n.219+436_219+437dup
NM_001322009.1:c.132+436_132+437dup NP_001308938.1:n.132+436_132+437dup
NM_001322010.1:c.132+436_132+437dup NP_001308939.1:n.132+436_132+437dup
NM_001322011.1:c.-348+436_-348+437dup NP_001308940.1:n.-348+436_-348+437dup
NM_001322012.1:c.-348+436_-348+437dup NP_001308941.1:n.-348+436_-348+437dup
NM_001322013.1:c.132+436_132+437dup NP_001308942.1:n.132+436_132+437dup
NM_001322014.1:c.537+436_537+437dup NP_001308943.1:n.537+436_537+437dup
NM_001322015.1:c.228+436_228+437dup NP_001308944.1:n.228+436_228+437dup
NR_136154.1:n.624+436_624+437dup
XM_017012342.2:c.-248+436_-248+437dup XP_016867831.1:n.-248+436_-248+437dup
XM_024446800.1:c.132+436_132+437dup XP_024302568.1:n.132+436_132+437dup
NM_000535.7:c.537+436_537+437dup MANE Select NP_000526.2:n.537+436_537+437dup
NM_001322003.2:c.132+436_132+437dup NP_001308932.1:n.132+436_132+437dup
NM_001322004.2:c.132+436_132+437dup NP_001308933.1:n.132+436_132+437dup
NM_001322005.2:c.132+436_132+437dup NP_001308934.1:n.132+436_132+437dup
NM_001322006.2:c.537+436_537+437dup NP_001308935.1:n.537+436_537+437dup
NM_001322008.2:c.219+436_219+437dup NP_001308937.1:n.219+436_219+437dup
NM_001322009.2:c.132+436_132+437dup NP_001308938.1:n.132+436_132+437dup
NM_001322010.2:c.132+436_132+437dup NP_001308939.1:n.132+436_132+437dup
NM_001322011.2:c.-348+436_-348+437dup NP_001308940.1:n.-348+436_-348+437dup
NM_001322012.2:c.-348+436_-348+437dup NP_001308941.1:n.-348+436_-348+437dup
NM_001322013.2:c.132+436_132+437dup NP_001308942.1:n.132+436_132+437dup
NM_001322014.2:c.537+436_537+437dup NP_001308943.1:n.537+436_537+437dup
NM_001322015.2:c.228+436_228+437dup NP_001308944.1:n.228+436_228+437dup
NM_001322007.2:c.219+436_219+437dup NP_001308936.1:n.219+436_219+437dup
Search 100 bp 5'
Search 100 bp 3'