Canonical Allele Identifier: CA16612157
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411021
ClinVar RCV Id: RCV002230426
dbSNP Id: rs1060503114
MyVariant Identifiers: chr7:g.6045618A>C (hg19) chr7:g.6005987A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.6005987A>C , CM000669.2:g.6005987A>C GRCh38
NC_000007.13:g.6045618A>C , CM000669.1:g.6045618A>C GRCh37
NC_000007.12:g.6012144A>C NCBI36
NG_008466.1:g.8120T>G , LRG_161:g.8120T>G
NG_050738.1:g.1737A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.68T>G ENSP00000514615.2:p.Val23Gly
ENST00000699840.2:c.68T>G ENSP00000514638.2:p.Val23Gly
ENST00000699930.2:c.68T>G ENSP00000514695.2:p.Val23Gly
ENST00000406569.8:c.68T>G ENSP00000514464.1:p.Val23Gly
ENST00000415839.3:n.133T>G
ENST00000644110.2:c.68T>G ENSP00000496392.2:p.Val23Gly
ENST00000699752.1:c.68T>G ENSP00000514561.1:p.Val23Gly
ENST00000699753.1:c.-338T>G ENSP00000514562.1:n.-338T>G
ENST00000699754.1:c.68T>G ENSP00000514563.1:p.Val23Gly
ENST00000699755.1:c.-338T>G ENSP00000514564.1:n.-338T>G
ENST00000699756.1:c.68T>G ENSP00000514565.1:p.Val23Gly
ENST00000699757.1:c.-148T>G ENSP00000514566.1:n.-148T>G
ENST00000699758.1:c.68T>G ENSP00000514567.1:p.Val23Gly
ENST00000699759.1:n.140T>G
ENST00000699760.1:c.-52-1929T>G ENSP00000514568.1:n.-52-1929T>G
ENST00000699761.1:c.-285T>G ENSP00000514569.1:n.-285T>G
ENST00000699762.1:c.-338T>G ENSP00000514570.1:n.-338T>G
ENST00000699763.1:c.-338T>G ENSP00000514571.1:n.-338T>G
ENST00000699764.1:c.68T>G ENSP00000514572.1:p.Val23Gly
ENST00000699765.1:c.-148T>G ENSP00000514573.1:n.-148T>G
ENST00000699766.1:c.68T>G ENSP00000514574.1:p.Val23Gly
ENST00000699767.1:c.68T>G ENSP00000514575.1:p.Val23Gly
ENST00000699768.1:c.68T>G ENSP00000514576.1:p.Val23Gly
ENST00000699769.1:n.148T>G
ENST00000699770.1:n.124T>G
ENST00000699811.1:c.-513T>G ENSP00000514614.1:n.-513T>G
ENST00000699815.1:c.-338T>G ENSP00000514616.1:n.-338T>G
ENST00000699816.1:c.-338T>G ENSP00000514617.1:n.-338T>G
ENST00000699817.1:c.68T>G ENSP00000514618.1:p.Val23Gly
ENST00000699818.1:c.-338T>G ENSP00000514619.1:n.-338T>G
ENST00000699819.1:c.-351T>G ENSP00000514620.1:n.-351T>G
ENST00000699820.1:c.68T>G ENSP00000514621.1:p.Val23Gly
ENST00000699821.1:c.-338T>G ENSP00000514622.1:n.-338T>G
ENST00000699822.1:c.-338T>G ENSP00000514623.1:n.-338T>G
ENST00000699823.1:c.-189-1929T>G ENSP00000514624.1:n.-189-1929T>G
ENST00000699824.1:c.68T>G ENSP00000514625.1:p.Val23Gly
ENST00000699825.1:c.-338T>G ENSP00000514626.1:n.-338T>G
ENST00000699826.1:c.-242-1929T>G ENSP00000514627.1:n.-242-1929T>G
ENST00000699827.1:c.68T>G ENSP00000514628.1:p.Val23Gly
ENST00000699828.1:c.68T>G ENSP00000514629.1:p.Val23Gly
ENST00000699829.1:c.-285T>G ENSP00000514630.1:n.-285T>G
ENST00000699830.1:c.68T>G ENSP00000514631.1:p.Val23Gly
ENST00000699831.1:n.29T>G
ENST00000699833.1:n.148T>G
ENST00000699834.1:n.274T>G
ENST00000699837.1:c.-235T>G ENSP00000514635.1:n.-235T>G
ENST00000699838.1:c.235T>G ENSP00000514636.1:p.Ser79Ala
ENST00000699839.1:c.254T>G ENSP00000514637.1:p.Val85Gly
ENST00000699840.1:c.68T>G ENSP00000514638.1:p.Val23Gly
ENST00000699916.1:c.-338T>G ENSP00000514684.1:n.-338T>G
ENST00000699917.1:c.68T>G ENSP00000514685.1:p.Val23Gly
ENST00000699918.1:c.68T>G ENSP00000514686.1:p.Val23Gly
ENST00000699919.1:c.68T>G ENSP00000514687.1:p.Val23Gly
ENST00000699920.1:c.68T>G ENSP00000514688.1:p.Val23Gly
ENST00000699928.1:c.68T>G ENSP00000514693.1:p.Val23Gly
ENST00000699929.1:c.68T>G ENSP00000514694.1:p.Val23Gly
ENST00000699930.1:c.68T>G ENSP00000514695.1:p.Val23Gly
ENST00000699931.1:n.179T>G
ENST00000699932.1:c.68T>G ENSP00000514696.1:p.Val23Gly
ENST00000699933.1:n.148T>G
ENST00000699951.1:c.68T>G ENSP00000514706.1:p.Val23Gly
ENST00000699952.1:c.68T>G ENSP00000514707.1:p.Val23Gly
ENST00000699953.1:c.68T>G ENSP00000514708.1:p.Val23Gly
ENST00000699954.1:c.68T>G ENSP00000514709.1:p.Val23Gly
ENST00000703409.1:n.267T>G
ENST00000265849.12:c.68T>G MANE Select ENSP00000265849.7:p.Val23Gly
ENST00000642292.1:c.-242-1929T>G ENSP00000495524.1:n.-242-1929T>G
ENST00000642456.1:c.-338T>G ENSP00000493814.1:n.-338T>G
ENST00000643595.1:c.68T>G ENSP00000494497.1:p.Val23Gly
ENST00000265849.11:c.68T>G ENSP00000265849.7:p.Val23Gly
ENST00000380416.5:n.147T>G
ENST00000382321.5:c.68T>G ENSP00000371758.4:p.Val23Gly
ENST00000406569.7:n.68T>G
ENST00000415839.2:n.80T>G
ENST00000441476.6:c.-148T>G ENSP00000392843.2:n.-148T>G
ENST00000469652.1:n.62+6T>G
NM_000535.5:c.68T>G , LRG_161t1:c.68T>G NP_000526.1:p.Val23Gly
NR_003085.2:n.150T>G
XM_006715742.2:c.62T>G XP_006715805.1:p.Val21Gly
XM_011515427.1:c.113T>G XP_011513729.1:p.Val38Gly
XM_011515428.1:c.113T>G XP_011513730.1:p.Val38Gly
XM_011515429.1:c.-148T>G XP_011513731.1:n.-148T>G
XM_011515430.1:c.-148T>G XP_011513732.1:n.-148T>G
NM_000535.6:c.68T>G NP_000526.2:p.Val23Gly
NM_001322003.1:c.-338T>G NP_001308932.1:n.-338T>G
NM_001322004.1:c.-242-1929T>G NP_001308933.1:n.-242-1929T>G
NM_001322005.1:c.-338T>G NP_001308934.1:n.-338T>G
NM_001322006.1:c.68T>G NP_001308935.1:p.Val23Gly
NM_001322007.1:c.-148T>G NP_001308936.1:n.-148T>G
NM_001322008.1:c.-52-1929T>G NP_001308937.1:n.-52-1929T>G
NM_001322009.1:c.-338T>G NP_001308938.1:n.-338T>G
NM_001322010.1:c.-242-1929T>G NP_001308939.1:n.-242-1929T>G
NM_001322011.1:c.-817T>G NP_001308940.1:n.-817T>G
NM_001322012.1:c.-817T>G NP_001308941.1:n.-817T>G
NM_001322013.1:c.-338T>G NP_001308942.1:n.-338T>G
NM_001322014.1:c.68T>G NP_001308943.1:p.Val23Gly
NM_001322015.1:c.-417T>G NP_001308944.1:n.-417T>G
NR_136154.1:n.155T>G
XM_017012342.2:c.-717T>G XP_016867831.1:n.-717T>G
XM_024446800.1:c.-338T>G XP_024302568.1:n.-338T>G
NM_000535.7:c.68T>G MANE Select NP_000526.2:p.Val23Gly
NM_001322003.2:c.-338T>G NP_001308932.1:n.-338T>G
NM_001322004.2:c.-242-1929T>G NP_001308933.1:n.-242-1929T>G
NM_001322005.2:c.-338T>G NP_001308934.1:n.-338T>G
NM_001322006.2:c.68T>G NP_001308935.1:p.Val23Gly
NM_001322008.2:c.-52-1929T>G NP_001308937.1:n.-52-1929T>G
NM_001322009.2:c.-338T>G NP_001308938.1:n.-338T>G
NM_001322010.2:c.-242-1929T>G NP_001308939.1:n.-242-1929T>G
NM_001322011.2:c.-817T>G NP_001308940.1:n.-817T>G
NM_001322012.2:c.-817T>G NP_001308941.1:n.-817T>G
NM_001322013.2:c.-338T>G NP_001308942.1:n.-338T>G
NM_001322014.2:c.68T>G NP_001308943.1:p.Val23Gly
NM_001322015.2:c.-417T>G NP_001308944.1:n.-417T>G
NM_001322007.2:c.-148T>G NP_001308936.1:n.-148T>G
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