Canonical Allele Identifier: CA366739292

Gene: PMS2

Linked Data

• dbSNP Id: rs1222779051
• gnomAD v3: 7-5986852-T-C
• gnomAD v4: 7-5986852-T-C
• MyVariant Identifiers: chr7:g.6026483T>C (hg19) ; chr7:g.5986852T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986852T>C , CM000669.2:g.5986852T>C	GRCh38
NC_000007.13:g.6026483T>C , CM000669.1:g.6026483T>C	GRCh37
NC_000007.12:g.5993009T>C	NCBI36
NG_008466.1:g.27255A>G , LRG_161:g.27255A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1309A>G	ENSP00000514615.2:n.*1309A>G
ENST00000699840.2:c.1910A>G	ENSP00000514638.2:p.Gln637Arg
ENST00000699930.2:c.1805A>G	ENSP00000514695.2:p.Gln602Arg
ENST00000406569.8:c.1678+235A>G	ENSP00000514464.1:n.1678+235A>G
ENST00000644110.2:c.*1507A>G	ENSP00000496392.2:n.*1507A>G
ENST00000699752.1:c.1757A>G	ENSP00000514561.1:p.Gln586Arg
ENST00000699753.1:c.*1334A>G	ENSP00000514562.1:n.*1334A>G
ENST00000699754.1:c.1715A>G	ENSP00000514563.1:p.Gln572Arg
ENST00000699755.1:c.*1312A>G	ENSP00000514564.1:n.*1312A>G
ENST00000699756.1:c.*1500A>G	ENSP00000514565.1:n.*1500A>G
ENST00000699757.1:c.*1170A>G	ENSP00000514566.1:n.*1170A>G
ENST00000699758.1:c.*1170A>G	ENSP00000514567.1:n.*1170A>G
ENST00000699759.1:n.2767A>G
ENST00000699760.1:c.1595A>G	ENSP00000514568.1:p.Gln532Arg
ENST00000699761.1:c.1508A>G	ENSP00000514569.1:p.Gln503Arg
ENST00000699762.1:c.1340A>G	ENSP00000514570.1:p.Gln447Arg
ENST00000699763.1:c.*1003A>G	ENSP00000514571.1:n.*1003A>G
ENST00000699764.1:c.*231A>G	ENSP00000514572.1:n.*231A>G
ENST00000699765.1:c.*1009A>G	ENSP00000514573.1:n.*1009A>G
ENST00000699766.1:c.1913A>G	ENSP00000514574.1:p.Gln638Arg
ENST00000699767.1:c.1913A>G	ENSP00000514575.1:p.Gln638Arg
ENST00000699768.1:c.1913A>G	ENSP00000514576.1:p.Gln638Arg
ENST00000699811.1:c.1508A>G	ENSP00000514614.1:p.Gln503Arg
ENST00000699813.1:n.2026A>G
ENST00000699814.1:c.1536A>G
ENST00000699815.1:c.*1444A>G	ENSP00000514616.1:n.*1444A>G
ENST00000699816.1:c.*803A>G	ENSP00000514617.1:n.*803A>G
ENST00000699817.1:c.*1507A>G	ENSP00000514618.1:n.*1507A>G
ENST00000699818.1:c.1508A>G	ENSP00000514619.1:p.Gln503Arg
ENST00000699819.1:c.*1070A>G	ENSP00000514620.1:n.*1070A>G
ENST00000699820.1:c.1144+2948A>G	ENSP00000514621.1:n.1144+2948A>G
ENST00000699821.1:c.1508A>G	ENSP00000514622.1:p.Gln503Arg
ENST00000699822.1:c.*1365A>G	ENSP00000514623.1:n.*1365A>G
ENST00000699823.1:c.1508A>G	ENSP00000514624.1:p.Gln503Arg
ENST00000699824.1:c.*1416A>G	ENSP00000514625.1:n.*1416A>G
ENST00000699825.1:c.1352A>G	ENSP00000514626.1:p.Gln451Arg
ENST00000699826.1:c.*1312A>G	ENSP00000514627.1:n.*1312A>G
ENST00000699827.1:c.1745A>G	ENSP00000514628.1:p.Gln582Arg
ENST00000699828.1:c.*1003A>G	ENSP00000514629.1:n.*1003A>G
ENST00000699833.1:n.3685A>G
ENST00000699837.1:c.1508A>G	ENSP00000514635.1:p.Gln503Arg
ENST00000699838.1:c.*1813A>G	ENSP00000514636.1:n.*1813A>G
ENST00000699839.1:c.2099A>G	ENSP00000514637.1:p.Gln700Arg
ENST00000699916.1:c.*1170A>G	ENSP00000514684.1:n.*1170A>G
ENST00000699917.1:c.*1362A>G	ENSP00000514685.1:n.*1362A>G
ENST00000699918.1:c.*1414A>G	ENSP00000514686.1:n.*1414A>G
ENST00000699919.1:c.*1500A>G	ENSP00000514687.1:n.*1500A>G
ENST00000699920.1:c.*1549A>G	ENSP00000514688.1:n.*1549A>G
ENST00000699928.1:c.989-3861A>G	ENSP00000514693.1:n.989-3861A>G
ENST00000699951.1:c.*1009A>G	ENSP00000514706.1:n.*1009A>G
ENST00000699952.1:c.803+10474A>G	ENSP00000514707.1:n.803+10474A>G
ENST00000265849.12:c.1913A>G MANE Select	ENSP00000265849.7:p.Gln638Arg
ENST00000642292.1:c.1508A>G	ENSP00000495524.1:p.Gln503Arg
ENST00000642456.1:c.1508A>G	ENSP00000493814.1:p.Gln503Arg
ENST00000643595.1:c.*1312A>G	ENSP00000494497.1:n.*1312A>G
ENST00000644110.1:c.1595A>G	ENSP00000496392.1:p.Gln532Arg
ENST00000265849.11:c.1913A>G	ENSP00000265849.7:p.Gln638Arg
ENST00000382321.5:c.804-3861A>G	ENSP00000371758.4:n.804-3861A>G
ENST00000406569.7:n.1678+235A>G
ENST00000441476.6:c.1595A>G	ENSP00000392843.2:p.Gln532Arg
ENST00000469652.1:n.63-3947A>G
NM_000535.5:c.1913A>G , LRG_161t1:c.1913A>G	NP_000526.1:p.Gln638Arg
NR_003085.2:n.1995A>G
XM_006715742.2:c.1907A>G	XP_006715805.1:p.Gln636Arg
XM_006715744.2:c.980A>G	XP_006715807.1:p.Gln327Arg
XM_011515427.1:c.1958A>G	XP_011513729.1:p.Gln653Arg
XM_011515428.1:c.1802A>G	XP_011513730.1:p.Gln601Arg
XM_011515429.1:c.1595A>G	XP_011513731.1:p.Gln532Arg
XM_011515430.1:c.1595A>G	XP_011513732.1:p.Gln532Arg
NM_000535.6:c.1913A>G	NP_000526.2:p.Gln638Arg
NM_001322003.1:c.1508A>G	NP_001308932.1:p.Gln503Arg
NM_001322004.1:c.1508A>G	NP_001308933.1:p.Gln503Arg
NM_001322005.1:c.1508A>G	NP_001308934.1:p.Gln503Arg
NM_001322006.1:c.1757A>G	NP_001308935.1:p.Gln586Arg
NM_001322007.1:c.1595A>G	NP_001308936.1:p.Gln532Arg
NM_001322008.1:c.1595A>G	NP_001308937.1:p.Gln532Arg
NM_001322009.1:c.1508A>G	NP_001308938.1:p.Gln503Arg
NM_001322010.1:c.1352A>G	NP_001308939.1:p.Gln451Arg
NM_001322011.1:c.980A>G	NP_001308940.1:p.Gln327Arg
NM_001322012.1:c.980A>G	NP_001308941.1:p.Gln327Arg
NM_001322013.1:c.1340A>G	NP_001308942.1:p.Gln447Arg
NM_001322014.1:c.1913A>G	NP_001308943.1:p.Gln638Arg
NM_001322015.1:c.1604A>G	NP_001308944.1:p.Gln535Arg
NR_136154.1:n.2000A>G
XM_006715744.4:c.980A>G	XP_006715807.1:p.Gln327Arg
XM_017012342.2:c.980A>G	XP_016867831.1:p.Gln327Arg
XM_024446800.1:c.1352A>G	XP_024302568.1:p.Gln451Arg
NM_000535.7:c.1913A>G MANE Select	NP_000526.2:p.Gln638Arg
NM_001322003.2:c.1508A>G	NP_001308932.1:p.Gln503Arg
NM_001322004.2:c.1508A>G	NP_001308933.1:p.Gln503Arg
NM_001322005.2:c.1508A>G	NP_001308934.1:p.Gln503Arg
NM_001322006.2:c.1757A>G	NP_001308935.1:p.Gln586Arg
NM_001322008.2:c.1595A>G	NP_001308937.1:p.Gln532Arg
NM_001322009.2:c.1508A>G	NP_001308938.1:p.Gln503Arg
NM_001322010.2:c.1352A>G	NP_001308939.1:p.Gln451Arg
NM_001322011.2:c.980A>G	NP_001308940.1:p.Gln327Arg
NM_001322012.2:c.980A>G	NP_001308941.1:p.Gln327Arg
NM_001322013.2:c.1340A>G	NP_001308942.1:p.Gln447Arg
NM_001322014.2:c.1913A>G	NP_001308943.1:p.Gln638Arg
NM_001322015.2:c.1604A>G	NP_001308944.1:p.Gln535Arg
NM_001322007.2:c.1595A>G	NP_001308936.1:p.Gln532Arg