Canonical Allele Identifier: CA10578645

Gene: PMS2

Linked Data

• ClinVar Variation Id: 233733
• ClinVar RCV Id: RCV000234758 ; RCV000222621
• dbSNP Id: rs372868520
• gnomAD v2: 7-6017279-C-A
• gnomAD v4: 7-5977648-C-A
• MyVariant Identifiers: chr7:g.6017279C>A (hg19) ; chr7:g.5977648C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977648C>A , CM000669.2:g.5977648C>A	GRCh38
NC_000007.13:g.6017279C>A , CM000669.1:g.6017279C>A	GRCh37
NC_000007.12:g.5983805C>A	NCBI36
NG_008466.1:g.36459G>T , LRG_161:g.36459G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1781G>T	ENSP00000514615.2:n.*1781G>T
ENST00000699840.2:c.2382G>T	ENSP00000514638.2:p.Gly794=
ENST00000699930.2:c.2277G>T	ENSP00000514695.2:p.Gly759=
ENST00000406569.8:c.1745G>T	ENSP00000514464.1:n.1745G>T
ENST00000644110.2:c.*1979G>T	ENSP00000496392.2:n.*1979G>T
ENST00000699752.1:c.2229G>T	ENSP00000514561.1:p.Gly743=
ENST00000699753.1:c.*1806G>T	ENSP00000514562.1:n.*1806G>T
ENST00000699754.1:c.2187G>T	ENSP00000514563.1:p.Gly729=
ENST00000699755.1:c.*1784G>T	ENSP00000514564.1:n.*1784G>T
ENST00000699756.1:c.*1972G>T	ENSP00000514565.1:n.*1972G>T
ENST00000699757.1:c.*1642G>T	ENSP00000514566.1:n.*1642G>T
ENST00000699758.1:c.*1642G>T	ENSP00000514567.1:n.*1642G>T
ENST00000699759.1:n.3239G>T
ENST00000699760.1:c.2067G>T	ENSP00000514568.1:p.Gly689=
ENST00000699761.1:c.1980G>T	ENSP00000514569.1:p.Gly660=
ENST00000699762.1:c.1812G>T	ENSP00000514570.1:p.Gly604=
ENST00000699763.1:c.*1475G>T	ENSP00000514571.1:n.*1475G>T
ENST00000699764.1:c.*703G>T	ENSP00000514572.1:n.*703G>T
ENST00000699765.1:c.*1380G>T	ENSP00000514573.1:n.*1380G>T
ENST00000699766.1:c.2418G>T	ENSP00000514574.1:p.Gly806=
ENST00000699767.1:c.*26G>T	ENSP00000514575.1:n.*26G>T
ENST00000699768.1:c.2241G>T	ENSP00000514576.1:p.Gly747=
ENST00000699811.1:c.1980G>T	ENSP00000514614.1:p.Gly660=
ENST00000699813.1:n.2498G>T
ENST00000699814.1:c.2008G>T
ENST00000699815.1:c.*1916G>T	ENSP00000514616.1:n.*1916G>T
ENST00000699816.1:c.*1275G>T	ENSP00000514617.1:n.*1275G>T
ENST00000699817.1:c.*1979G>T	ENSP00000514618.1:n.*1979G>T
ENST00000699818.1:c.1980G>T	ENSP00000514619.1:p.Gly660=
ENST00000699819.1:c.*1542G>T	ENSP00000514620.1:n.*1542G>T
ENST00000699820.1:c.*323G>T	ENSP00000514621.1:n.*323G>T
ENST00000699821.1:c.2013G>T	ENSP00000514622.1:p.Gly671=
ENST00000699822.1:c.*1837G>T	ENSP00000514623.1:n.*1837G>T
ENST00000699823.1:c.1980G>T	ENSP00000514624.1:p.Gly660=
ENST00000699824.1:c.*1888G>T	ENSP00000514625.1:n.*1888G>T
ENST00000699825.1:c.1824G>T	ENSP00000514626.1:p.Gly608=
ENST00000699826.1:c.*1784G>T	ENSP00000514627.1:n.*1784G>T
ENST00000699827.1:c.2217G>T	ENSP00000514628.1:p.Gly739=
ENST00000699828.1:c.*1475G>T	ENSP00000514629.1:n.*1475G>T
ENST00000699833.1:n.4157G>T
ENST00000699837.1:c.1980G>T	ENSP00000514635.1:p.Gly660=
ENST00000699838.1:c.*2285G>T	ENSP00000514636.1:n.*2285G>T
ENST00000699839.1:c.2571G>T	ENSP00000514637.1:p.Gly857=
ENST00000699916.1:c.*1642G>T	ENSP00000514684.1:n.*1642G>T
ENST00000699917.1:c.*1834G>T	ENSP00000514685.1:n.*1834G>T
ENST00000699918.1:c.*1886G>T	ENSP00000514686.1:n.*1886G>T
ENST00000699919.1:c.*1972G>T	ENSP00000514687.1:n.*1972G>T
ENST00000699920.1:c.*2021G>T	ENSP00000514688.1:n.*2021G>T
ENST00000699928.1:c.*323G>T	ENSP00000514693.1:n.*323G>T
ENST00000699951.1:c.*1438G>T	ENSP00000514706.1:n.*1438G>T
ENST00000699952.1:c.804-4106G>T	ENSP00000514707.1:n.804-4106G>T
ENST00000265849.12:c.2385G>T MANE Select	ENSP00000265849.7:p.Gly795=
ENST00000642292.1:c.1980G>T	ENSP00000495524.1:p.Gly660=
ENST00000642456.1:c.1980G>T	ENSP00000493814.1:p.Gly660=
ENST00000643595.1:c.*1784G>T	ENSP00000494497.1:n.*1784G>T
ENST00000644110.1:c.2067G>T	ENSP00000496392.1:p.Gly689=
ENST00000265849.11:c.2385G>T	ENSP00000265849.7:p.Gly795=
ENST00000382321.5:c.1182G>T	ENSP00000371758.4:p.Gly394=
ENST00000441476.6:c.2067G>T	ENSP00000392843.2:p.Gly689=
NM_000535.5:c.2385G>T , LRG_161t1:c.2385G>T	NP_000526.1:p.Gly795=
NR_003085.2:n.2467G>T
XM_006715742.2:c.2379G>T	XP_006715805.1:p.Gly793=
XM_006715744.2:c.1452G>T	XP_006715807.1:p.Gly484=
XM_011515427.1:c.2430G>T	XP_011513729.1:p.Gly810=
XM_011515428.1:c.2274G>T	XP_011513730.1:p.Gly758=
XM_011515429.1:c.2067G>T	XP_011513731.1:p.Gly689=
XM_011515430.1:c.2067G>T	XP_011513732.1:p.Gly689=
NM_000535.6:c.2385G>T	NP_000526.2:p.Gly795=
NM_001322003.1:c.1980G>T	NP_001308932.1:p.Gly660=
NM_001322004.1:c.1980G>T	NP_001308933.1:p.Gly660=
NM_001322005.1:c.1980G>T	NP_001308934.1:p.Gly660=
NM_001322006.1:c.2229G>T	NP_001308935.1:p.Gly743=
NM_001322007.1:c.2067G>T	NP_001308936.1:p.Gly689=
NM_001322008.1:c.2067G>T	NP_001308937.1:p.Gly689=
NM_001322009.1:c.2013G>T	NP_001308938.1:p.Gly671=
NM_001322010.1:c.1824G>T	NP_001308939.1:p.Gly608=
NM_001322011.1:c.1452G>T	NP_001308940.1:p.Gly484=
NM_001322012.1:c.1452G>T	NP_001308941.1:p.Gly484=
NM_001322013.1:c.1812G>T	NP_001308942.1:p.Gly604=
NM_001322014.1:c.2418G>T	NP_001308943.1:p.Gly806=
NM_001322015.1:c.2076G>T	NP_001308944.1:p.Gly692=
NR_136154.1:n.2429G>T
XM_006715744.4:c.1452G>T	XP_006715807.1:p.Gly484=
XM_017012342.2:c.1452G>T	XP_016867831.1:p.Gly484=
XM_024446800.1:c.1824G>T	XP_024302568.1:p.Gly608=
NM_000535.7:c.2385G>T MANE Select	NP_000526.2:p.Gly795=
NM_001322003.2:c.1980G>T	NP_001308932.1:p.Gly660=
NM_001322004.2:c.1980G>T	NP_001308933.1:p.Gly660=
NM_001322005.2:c.1980G>T	NP_001308934.1:p.Gly660=
NM_001322006.2:c.2229G>T	NP_001308935.1:p.Gly743=
NM_001322008.2:c.2067G>T	NP_001308937.1:p.Gly689=
NM_001322009.2:c.2013G>T	NP_001308938.1:p.Gly671=
NM_001322010.2:c.1824G>T	NP_001308939.1:p.Gly608=
NM_001322011.2:c.1452G>T	NP_001308940.1:p.Gly484=
NM_001322012.2:c.1452G>T	NP_001308941.1:p.Gly484=
NM_001322013.2:c.1812G>T	NP_001308942.1:p.Gly604=
NM_001322014.2:c.2418G>T	NP_001308943.1:p.Gly806=
NM_001322015.2:c.2076G>T	NP_001308944.1:p.Gly692=
NM_001322007.2:c.2067G>T	NP_001308936.1:p.Gly689=