Canonical Allele Identifier: CA453745716

Gene: PMS2

Linked Data

• dbSNP Id: rs2128720740
• MyVariant Identifiers: chr7:g.6026446T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986815T>A , CM000669.2:g.5986815T>A	GRCh38
NC_000007.13:g.6026446T>A , CM000669.1:g.6026446T>A	GRCh37
NC_000007.12:g.5992972T>A	NCBI36
NG_008466.1:g.27292A>T , LRG_161:g.27292A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1346A>T	ENSP00000514615.2:n.*1346A>T
ENST00000699840.2:c.1947A>T	ENSP00000514638.2:p.Ala649=
ENST00000699930.2:c.1842A>T	ENSP00000514695.2:p.Ala614=
ENST00000406569.8:c.1678+272A>T	ENSP00000514464.1:n.1678+272A>T
ENST00000644110.2:c.*1544A>T	ENSP00000496392.2:n.*1544A>T
ENST00000699752.1:c.1794A>T	ENSP00000514561.1:p.Ala598=
ENST00000699753.1:c.*1371A>T	ENSP00000514562.1:n.*1371A>T
ENST00000699754.1:c.1752A>T	ENSP00000514563.1:p.Ala584=
ENST00000699755.1:c.*1349A>T	ENSP00000514564.1:n.*1349A>T
ENST00000699756.1:c.*1537A>T	ENSP00000514565.1:n.*1537A>T
ENST00000699757.1:c.*1207A>T	ENSP00000514566.1:n.*1207A>T
ENST00000699758.1:c.*1207A>T	ENSP00000514567.1:n.*1207A>T
ENST00000699759.1:n.2804A>T
ENST00000699760.1:c.1632A>T	ENSP00000514568.1:p.Ala544=
ENST00000699761.1:c.1545A>T	ENSP00000514569.1:p.Ala515=
ENST00000699762.1:c.1377A>T	ENSP00000514570.1:p.Ala459=
ENST00000699763.1:c.*1040A>T	ENSP00000514571.1:n.*1040A>T
ENST00000699764.1:c.*268A>T	ENSP00000514572.1:n.*268A>T
ENST00000699765.1:c.*1046A>T	ENSP00000514573.1:n.*1046A>T
ENST00000699766.1:c.1950A>T	ENSP00000514574.1:p.Ala650=
ENST00000699767.1:c.1950A>T	ENSP00000514575.1:p.Ala650=
ENST00000699768.1:c.1950A>T	ENSP00000514576.1:p.Ala650=
ENST00000699811.1:c.1545A>T	ENSP00000514614.1:p.Ala515=
ENST00000699813.1:n.2063A>T
ENST00000699814.1:c.1573A>T
ENST00000699815.1:c.*1481A>T	ENSP00000514616.1:n.*1481A>T
ENST00000699816.1:c.*840A>T	ENSP00000514617.1:n.*840A>T
ENST00000699817.1:c.*1544A>T	ENSP00000514618.1:n.*1544A>T
ENST00000699818.1:c.1545A>T	ENSP00000514619.1:p.Ala515=
ENST00000699819.1:c.*1107A>T	ENSP00000514620.1:n.*1107A>T
ENST00000699820.1:c.1144+2985A>T	ENSP00000514621.1:n.1144+2985A>T
ENST00000699821.1:c.1545A>T	ENSP00000514622.1:p.Ala515=
ENST00000699822.1:c.*1402A>T	ENSP00000514623.1:n.*1402A>T
ENST00000699823.1:c.1545A>T	ENSP00000514624.1:p.Ala515=
ENST00000699824.1:c.*1453A>T	ENSP00000514625.1:n.*1453A>T
ENST00000699825.1:c.1389A>T	ENSP00000514626.1:p.Ala463=
ENST00000699826.1:c.*1349A>T	ENSP00000514627.1:n.*1349A>T
ENST00000699827.1:c.1782A>T	ENSP00000514628.1:p.Ala594=
ENST00000699828.1:c.*1040A>T	ENSP00000514629.1:n.*1040A>T
ENST00000699833.1:n.3722A>T
ENST00000699837.1:c.1545A>T	ENSP00000514635.1:p.Ala515=
ENST00000699838.1:c.*1850A>T	ENSP00000514636.1:n.*1850A>T
ENST00000699839.1:c.2136A>T	ENSP00000514637.1:p.Ala712=
ENST00000699916.1:c.*1207A>T	ENSP00000514684.1:n.*1207A>T
ENST00000699917.1:c.*1399A>T	ENSP00000514685.1:n.*1399A>T
ENST00000699918.1:c.*1451A>T	ENSP00000514686.1:n.*1451A>T
ENST00000699919.1:c.*1537A>T	ENSP00000514687.1:n.*1537A>T
ENST00000699920.1:c.*1586A>T	ENSP00000514688.1:n.*1586A>T
ENST00000699928.1:c.989-3824A>T	ENSP00000514693.1:n.989-3824A>T
ENST00000699951.1:c.*1046A>T	ENSP00000514706.1:n.*1046A>T
ENST00000699952.1:c.803+10511A>T	ENSP00000514707.1:n.803+10511A>T
ENST00000265849.12:c.1950A>T MANE Select	ENSP00000265849.7:p.Ala650=
ENST00000642292.1:c.1545A>T	ENSP00000495524.1:p.Ala515=
ENST00000642456.1:c.1545A>T	ENSP00000493814.1:p.Ala515=
ENST00000643595.1:c.*1349A>T	ENSP00000494497.1:n.*1349A>T
ENST00000644110.1:c.1632A>T	ENSP00000496392.1:p.Ala544=
ENST00000265849.11:c.1950A>T	ENSP00000265849.7:p.Ala650=
ENST00000382321.5:c.804-3824A>T	ENSP00000371758.4:n.804-3824A>T
ENST00000406569.7:n.1678+272A>T
ENST00000441476.6:c.1632A>T	ENSP00000392843.2:p.Ala544=
ENST00000469652.1:n.63-3910A>T
NM_000535.5:c.1950A>T , LRG_161t1:c.1950A>T	NP_000526.1:p.Ala650=
NR_003085.2:n.2032A>T
XM_006715742.2:c.1944A>T	XP_006715805.1:p.Ala648=
XM_006715744.2:c.1017A>T	XP_006715807.1:p.Ala339=
XM_011515427.1:c.1995A>T	XP_011513729.1:p.Ala665=
XM_011515428.1:c.1839A>T	XP_011513730.1:p.Ala613=
XM_011515429.1:c.1632A>T	XP_011513731.1:p.Ala544=
XM_011515430.1:c.1632A>T	XP_011513732.1:p.Ala544=
NM_000535.6:c.1950A>T	NP_000526.2:p.Ala650=
NM_001322003.1:c.1545A>T	NP_001308932.1:p.Ala515=
NM_001322004.1:c.1545A>T	NP_001308933.1:p.Ala515=
NM_001322005.1:c.1545A>T	NP_001308934.1:p.Ala515=
NM_001322006.1:c.1794A>T	NP_001308935.1:p.Ala598=
NM_001322007.1:c.1632A>T	NP_001308936.1:p.Ala544=
NM_001322008.1:c.1632A>T	NP_001308937.1:p.Ala544=
NM_001322009.1:c.1545A>T	NP_001308938.1:p.Ala515=
NM_001322010.1:c.1389A>T	NP_001308939.1:p.Ala463=
NM_001322011.1:c.1017A>T	NP_001308940.1:p.Ala339=
NM_001322012.1:c.1017A>T	NP_001308941.1:p.Ala339=
NM_001322013.1:c.1377A>T	NP_001308942.1:p.Ala459=
NM_001322014.1:c.1950A>T	NP_001308943.1:p.Ala650=
NM_001322015.1:c.1641A>T	NP_001308944.1:p.Ala547=
NR_136154.1:n.2037A>T
XM_006715744.4:c.1017A>T	XP_006715807.1:p.Ala339=
XM_017012342.2:c.1017A>T	XP_016867831.1:p.Ala339=
XM_024446800.1:c.1389A>T	XP_024302568.1:p.Ala463=
NM_000535.7:c.1950A>T MANE Select	NP_000526.2:p.Ala650=
NM_001322003.2:c.1545A>T	NP_001308932.1:p.Ala515=
NM_001322004.2:c.1545A>T	NP_001308933.1:p.Ala515=
NM_001322005.2:c.1545A>T	NP_001308934.1:p.Ala515=
NM_001322006.2:c.1794A>T	NP_001308935.1:p.Ala598=
NM_001322008.2:c.1632A>T	NP_001308937.1:p.Ala544=
NM_001322009.2:c.1545A>T	NP_001308938.1:p.Ala515=
NM_001322010.2:c.1389A>T	NP_001308939.1:p.Ala463=
NM_001322011.2:c.1017A>T	NP_001308940.1:p.Ala339=
NM_001322012.2:c.1017A>T	NP_001308941.1:p.Ala339=
NM_001322013.2:c.1377A>T	NP_001308942.1:p.Ala459=
NM_001322014.2:c.1950A>T	NP_001308943.1:p.Ala650=
NM_001322015.2:c.1641A>T	NP_001308944.1:p.Ala547=
NM_001322007.2:c.1632A>T	NP_001308936.1:p.Ala544=