Canonical Allele Identifier: CA366739308

Gene: PMS2

Linked Data

• ClinVar Variation Id: 496033
• ClinVar RCV Id: RCV000590029 ; RCV000759915 ; RCV001219508 ; RCV002413666 ; RCV003451332
• dbSNP Id: rs1554297125
• MyVariant Identifiers: chr7:g.6026487G>A (hg19) ; chr7:g.5986856G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986856G>A , CM000669.2:g.5986856G>A	GRCh38
NC_000007.13:g.6026487G>A , CM000669.1:g.6026487G>A	GRCh37
NC_000007.12:g.5993013G>A	NCBI36
NG_008466.1:g.27251C>T , LRG_161:g.27251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1305C>T	ENSP00000514615.2:n.*1305C>T
ENST00000699840.2:c.1906C>T	ENSP00000514638.2:p.Gln636Ter
ENST00000699930.2:c.1801C>T	ENSP00000514695.2:p.Gln601Ter
ENST00000406569.8:c.1678+231C>T	ENSP00000514464.1:n.1678+231C>T
ENST00000644110.2:c.*1503C>T	ENSP00000496392.2:n.*1503C>T
ENST00000699752.1:c.1753C>T	ENSP00000514561.1:p.Gln585Ter
ENST00000699753.1:c.*1330C>T	ENSP00000514562.1:n.*1330C>T
ENST00000699754.1:c.1711C>T	ENSP00000514563.1:p.Gln571Ter
ENST00000699755.1:c.*1308C>T	ENSP00000514564.1:n.*1308C>T
ENST00000699756.1:c.*1496C>T	ENSP00000514565.1:n.*1496C>T
ENST00000699757.1:c.*1166C>T	ENSP00000514566.1:n.*1166C>T
ENST00000699758.1:c.*1166C>T	ENSP00000514567.1:n.*1166C>T
ENST00000699759.1:n.2763C>T
ENST00000699760.1:c.1591C>T	ENSP00000514568.1:p.Gln531Ter
ENST00000699761.1:c.1504C>T	ENSP00000514569.1:p.Gln502Ter
ENST00000699762.1:c.1336C>T	ENSP00000514570.1:p.Gln446Ter
ENST00000699763.1:c.*999C>T	ENSP00000514571.1:n.*999C>T
ENST00000699764.1:c.*227C>T	ENSP00000514572.1:n.*227C>T
ENST00000699765.1:c.*1005C>T	ENSP00000514573.1:n.*1005C>T
ENST00000699766.1:c.1909C>T	ENSP00000514574.1:p.Gln637Ter
ENST00000699767.1:c.1909C>T	ENSP00000514575.1:p.Gln637Ter
ENST00000699768.1:c.1909C>T	ENSP00000514576.1:p.Gln637Ter
ENST00000699811.1:c.1504C>T	ENSP00000514614.1:p.Gln502Ter
ENST00000699813.1:n.2022C>T
ENST00000699814.1:c.1532C>T
ENST00000699815.1:c.*1440C>T	ENSP00000514616.1:n.*1440C>T
ENST00000699816.1:c.*799C>T	ENSP00000514617.1:n.*799C>T
ENST00000699817.1:c.*1503C>T	ENSP00000514618.1:n.*1503C>T
ENST00000699818.1:c.1504C>T	ENSP00000514619.1:p.Gln502Ter
ENST00000699819.1:c.*1066C>T	ENSP00000514620.1:n.*1066C>T
ENST00000699820.1:c.1144+2944C>T	ENSP00000514621.1:n.1144+2944C>T
ENST00000699821.1:c.1504C>T	ENSP00000514622.1:p.Gln502Ter
ENST00000699822.1:c.*1361C>T	ENSP00000514623.1:n.*1361C>T
ENST00000699823.1:c.1504C>T	ENSP00000514624.1:p.Gln502Ter
ENST00000699824.1:c.*1412C>T	ENSP00000514625.1:n.*1412C>T
ENST00000699825.1:c.1348C>T	ENSP00000514626.1:p.Gln450Ter
ENST00000699826.1:c.*1308C>T	ENSP00000514627.1:n.*1308C>T
ENST00000699827.1:c.1741C>T	ENSP00000514628.1:p.Gln581Ter
ENST00000699828.1:c.*999C>T	ENSP00000514629.1:n.*999C>T
ENST00000699833.1:n.3681C>T
ENST00000699837.1:c.1504C>T	ENSP00000514635.1:p.Gln502Ter
ENST00000699838.1:c.*1809C>T	ENSP00000514636.1:n.*1809C>T
ENST00000699839.1:c.2095C>T	ENSP00000514637.1:p.Gln699Ter
ENST00000699916.1:c.*1166C>T	ENSP00000514684.1:n.*1166C>T
ENST00000699917.1:c.*1358C>T	ENSP00000514685.1:n.*1358C>T
ENST00000699918.1:c.*1410C>T	ENSP00000514686.1:n.*1410C>T
ENST00000699919.1:c.*1496C>T	ENSP00000514687.1:n.*1496C>T
ENST00000699920.1:c.*1545C>T	ENSP00000514688.1:n.*1545C>T
ENST00000699928.1:c.989-3865C>T	ENSP00000514693.1:n.989-3865C>T
ENST00000699951.1:c.*1005C>T	ENSP00000514706.1:n.*1005C>T
ENST00000699952.1:c.803+10470C>T	ENSP00000514707.1:n.803+10470C>T
ENST00000265849.12:c.1909C>T MANE Select	ENSP00000265849.7:p.Gln637Ter
ENST00000642292.1:c.1504C>T	ENSP00000495524.1:p.Gln502Ter
ENST00000642456.1:c.1504C>T	ENSP00000493814.1:p.Gln502Ter
ENST00000643595.1:c.*1308C>T	ENSP00000494497.1:n.*1308C>T
ENST00000644110.1:c.1591C>T	ENSP00000496392.1:p.Gln531Ter
ENST00000265849.11:c.1909C>T	ENSP00000265849.7:p.Gln637Ter
ENST00000382321.5:c.804-3865C>T	ENSP00000371758.4:n.804-3865C>T
ENST00000406569.7:n.1678+231C>T
ENST00000441476.6:c.1591C>T	ENSP00000392843.2:p.Gln531Ter
ENST00000469652.1:n.63-3951C>T
NM_000535.5:c.1909C>T , LRG_161t1:c.1909C>T	NP_000526.1:p.Gln637Ter
NR_003085.2:n.1991C>T
XM_006715742.2:c.1903C>T	XP_006715805.1:p.Gln635Ter
XM_006715744.2:c.976C>T	XP_006715807.1:p.Gln326Ter
XM_011515427.1:c.1954C>T	XP_011513729.1:p.Gln652Ter
XM_011515428.1:c.1798C>T	XP_011513730.1:p.Gln600Ter
XM_011515429.1:c.1591C>T	XP_011513731.1:p.Gln531Ter
XM_011515430.1:c.1591C>T	XP_011513732.1:p.Gln531Ter
NM_000535.6:c.1909C>T	NP_000526.2:p.Gln637Ter
NM_001322003.1:c.1504C>T	NP_001308932.1:p.Gln502Ter
NM_001322004.1:c.1504C>T	NP_001308933.1:p.Gln502Ter
NM_001322005.1:c.1504C>T	NP_001308934.1:p.Gln502Ter
NM_001322006.1:c.1753C>T	NP_001308935.1:p.Gln585Ter
NM_001322007.1:c.1591C>T	NP_001308936.1:p.Gln531Ter
NM_001322008.1:c.1591C>T	NP_001308937.1:p.Gln531Ter
NM_001322009.1:c.1504C>T	NP_001308938.1:p.Gln502Ter
NM_001322010.1:c.1348C>T	NP_001308939.1:p.Gln450Ter
NM_001322011.1:c.976C>T	NP_001308940.1:p.Gln326Ter
NM_001322012.1:c.976C>T	NP_001308941.1:p.Gln326Ter
NM_001322013.1:c.1336C>T	NP_001308942.1:p.Gln446Ter
NM_001322014.1:c.1909C>T	NP_001308943.1:p.Gln637Ter
NM_001322015.1:c.1600C>T	NP_001308944.1:p.Gln534Ter
NR_136154.1:n.1996C>T
XM_006715744.4:c.976C>T	XP_006715807.1:p.Gln326Ter
XM_017012342.2:c.976C>T	XP_016867831.1:p.Gln326Ter
XM_024446800.1:c.1348C>T	XP_024302568.1:p.Gln450Ter
NM_000535.7:c.1909C>T MANE Select	NP_000526.2:p.Gln637Ter
NM_001322003.2:c.1504C>T	NP_001308932.1:p.Gln502Ter
NM_001322004.2:c.1504C>T	NP_001308933.1:p.Gln502Ter
NM_001322005.2:c.1504C>T	NP_001308934.1:p.Gln502Ter
NM_001322006.2:c.1753C>T	NP_001308935.1:p.Gln585Ter
NM_001322008.2:c.1591C>T	NP_001308937.1:p.Gln531Ter
NM_001322009.2:c.1504C>T	NP_001308938.1:p.Gln502Ter
NM_001322010.2:c.1348C>T	NP_001308939.1:p.Gln450Ter
NM_001322011.2:c.976C>T	NP_001308940.1:p.Gln326Ter
NM_001322012.2:c.976C>T	NP_001308941.1:p.Gln326Ter
NM_001322013.2:c.1336C>T	NP_001308942.1:p.Gln446Ter
NM_001322014.2:c.1909C>T	NP_001308943.1:p.Gln637Ter
NM_001322015.2:c.1600C>T	NP_001308944.1:p.Gln534Ter
NM_001322007.2:c.1591C>T	NP_001308936.1:p.Gln531Ter