Canonical Allele Identifier: CA453642287

Gene: PMS2

Linked Data

• gnomAD v4: 7-5977588-C-A
• MyVariant Identifiers: chr7:g.6017219C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977588C>A , CM000669.2:g.5977588C>A	GRCh38
NC_000007.13:g.6017219C>A , CM000669.1:g.6017219C>A	GRCh37
NC_000007.12:g.5983745C>A	NCBI36
NG_008466.1:g.36519G>T , LRG_161:g.36519G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1841G>T	ENSP00000514615.2:n.*1841G>T
ENST00000699840.2:c.2442G>T	ENSP00000514638.2:p.Ser814=
ENST00000699930.2:c.2337G>T	ENSP00000514695.2:p.Ser779=
ENST00000406569.8:c.1805G>T	ENSP00000514464.1:n.1805G>T
ENST00000644110.2:c.*2039G>T	ENSP00000496392.2:n.*2039G>T
ENST00000699752.1:c.2289G>T	ENSP00000514561.1:p.Ser763=
ENST00000699753.1:c.*1866G>T	ENSP00000514562.1:n.*1866G>T
ENST00000699754.1:c.2247G>T	ENSP00000514563.1:p.Ser749=
ENST00000699755.1:c.*1844G>T	ENSP00000514564.1:n.*1844G>T
ENST00000699756.1:c.*2032G>T	ENSP00000514565.1:n.*2032G>T
ENST00000699757.1:c.*1702G>T	ENSP00000514566.1:n.*1702G>T
ENST00000699758.1:c.*1702G>T	ENSP00000514567.1:n.*1702G>T
ENST00000699759.1:n.3299G>T
ENST00000699760.1:c.2127G>T	ENSP00000514568.1:p.Ser709=
ENST00000699761.1:c.2040G>T	ENSP00000514569.1:p.Ser680=
ENST00000699762.1:c.1872G>T	ENSP00000514570.1:p.Ser624=
ENST00000699763.1:c.*1535G>T	ENSP00000514571.1:n.*1535G>T
ENST00000699764.1:c.*763G>T	ENSP00000514572.1:n.*763G>T
ENST00000699765.1:c.*1440G>T	ENSP00000514573.1:n.*1440G>T
ENST00000699766.1:c.2478G>T	ENSP00000514574.1:p.Ser826=
ENST00000699767.1:c.*86G>T	ENSP00000514575.1:n.*86G>T
ENST00000699768.1:c.2301G>T	ENSP00000514576.1:p.Ser767=
ENST00000699811.1:c.2040G>T	ENSP00000514614.1:p.Ser680=
ENST00000699813.1:n.2558G>T
ENST00000699814.1:c.2068G>T
ENST00000699815.1:c.*1976G>T	ENSP00000514616.1:n.*1976G>T
ENST00000699816.1:c.*1335G>T	ENSP00000514617.1:n.*1335G>T
ENST00000699817.1:c.*2039G>T	ENSP00000514618.1:n.*2039G>T
ENST00000699818.1:c.2040G>T	ENSP00000514619.1:p.Ser680=
ENST00000699819.1:c.*1602G>T	ENSP00000514620.1:n.*1602G>T
ENST00000699820.1:c.*383G>T	ENSP00000514621.1:n.*383G>T
ENST00000699821.1:c.2073G>T	ENSP00000514622.1:p.Ser691=
ENST00000699822.1:c.*1897G>T	ENSP00000514623.1:n.*1897G>T
ENST00000699823.1:c.2040G>T	ENSP00000514624.1:p.Ser680=
ENST00000699824.1:c.*1948G>T	ENSP00000514625.1:n.*1948G>T
ENST00000699825.1:c.1884G>T	ENSP00000514626.1:p.Ser628=
ENST00000699826.1:c.*1844G>T	ENSP00000514627.1:n.*1844G>T
ENST00000699827.1:c.2277G>T	ENSP00000514628.1:p.Ser759=
ENST00000699828.1:c.*1535G>T	ENSP00000514629.1:n.*1535G>T
ENST00000699833.1:n.4217G>T
ENST00000699837.1:c.2040G>T	ENSP00000514635.1:p.Ser680=
ENST00000699838.1:c.*2345G>T	ENSP00000514636.1:n.*2345G>T
ENST00000699839.1:c.2631G>T	ENSP00000514637.1:p.Ser877=
ENST00000699916.1:c.*1702G>T	ENSP00000514684.1:n.*1702G>T
ENST00000699917.1:c.*1894G>T	ENSP00000514685.1:n.*1894G>T
ENST00000699918.1:c.*1946G>T	ENSP00000514686.1:n.*1946G>T
ENST00000699919.1:c.*2032G>T	ENSP00000514687.1:n.*2032G>T
ENST00000699920.1:c.*2081G>T	ENSP00000514688.1:n.*2081G>T
ENST00000699928.1:c.*383G>T	ENSP00000514693.1:n.*383G>T
ENST00000699951.1:c.*1498G>T	ENSP00000514706.1:n.*1498G>T
ENST00000699952.1:c.804-4046G>T	ENSP00000514707.1:n.804-4046G>T
ENST00000265849.12:c.2445G>T MANE Select	ENSP00000265849.7:p.Ser815=
ENST00000642292.1:c.2040G>T	ENSP00000495524.1:p.Ser680=
ENST00000642456.1:c.2040G>T	ENSP00000493814.1:p.Ser680=
ENST00000643595.1:c.*1844G>T	ENSP00000494497.1:n.*1844G>T
ENST00000644110.1:c.2127G>T	ENSP00000496392.1:p.Ser709=
ENST00000265849.11:c.2445G>T	ENSP00000265849.7:p.Ser815=
ENST00000382321.5:c.1242G>T	ENSP00000371758.4:p.Ser414=
ENST00000441476.6:c.2127G>T	ENSP00000392843.2:p.Ser709=
NM_000535.5:c.2445G>T , LRG_161t1:c.2445G>T	NP_000526.1:p.Ser815=
NR_003085.2:n.2527G>T
XM_006715742.2:c.2439G>T	XP_006715805.1:p.Ser813=
XM_006715744.2:c.1512G>T	XP_006715807.1:p.Ser504=
XM_011515427.1:c.2490G>T	XP_011513729.1:p.Ser830=
XM_011515428.1:c.2334G>T	XP_011513730.1:p.Ser778=
XM_011515429.1:c.2127G>T	XP_011513731.1:p.Ser709=
XM_011515430.1:c.2127G>T	XP_011513732.1:p.Ser709=
NM_000535.6:c.2445G>T	NP_000526.2:p.Ser815=
NM_001322003.1:c.2040G>T	NP_001308932.1:p.Ser680=
NM_001322004.1:c.2040G>T	NP_001308933.1:p.Ser680=
NM_001322005.1:c.2040G>T	NP_001308934.1:p.Ser680=
NM_001322006.1:c.2289G>T	NP_001308935.1:p.Ser763=
NM_001322007.1:c.2127G>T	NP_001308936.1:p.Ser709=
NM_001322008.1:c.2127G>T	NP_001308937.1:p.Ser709=
NM_001322009.1:c.2073G>T	NP_001308938.1:p.Ser691=
NM_001322010.1:c.1884G>T	NP_001308939.1:p.Ser628=
NM_001322011.1:c.1512G>T	NP_001308940.1:p.Ser504=
NM_001322012.1:c.1512G>T	NP_001308941.1:p.Ser504=
NM_001322013.1:c.1872G>T	NP_001308942.1:p.Ser624=
NM_001322014.1:c.2478G>T	NP_001308943.1:p.Ser826=
NM_001322015.1:c.2136G>T	NP_001308944.1:p.Ser712=
NR_136154.1:n.2489G>T
XM_006715744.4:c.1512G>T	XP_006715807.1:p.Ser504=
XM_017012342.2:c.1512G>T	XP_016867831.1:p.Ser504=
XM_024446800.1:c.1884G>T	XP_024302568.1:p.Ser628=
NM_000535.7:c.2445G>T MANE Select	NP_000526.2:p.Ser815=
NM_001322003.2:c.2040G>T	NP_001308932.1:p.Ser680=
NM_001322004.2:c.2040G>T	NP_001308933.1:p.Ser680=
NM_001322005.2:c.2040G>T	NP_001308934.1:p.Ser680=
NM_001322006.2:c.2289G>T	NP_001308935.1:p.Ser763=
NM_001322008.2:c.2127G>T	NP_001308937.1:p.Ser709=
NM_001322009.2:c.2073G>T	NP_001308938.1:p.Ser691=
NM_001322010.2:c.1884G>T	NP_001308939.1:p.Ser628=
NM_001322011.2:c.1512G>T	NP_001308940.1:p.Ser504=
NM_001322012.2:c.1512G>T	NP_001308941.1:p.Ser504=
NM_001322013.2:c.1872G>T	NP_001308942.1:p.Ser624=
NM_001322014.2:c.2478G>T	NP_001308943.1:p.Ser826=
NM_001322015.2:c.2136G>T	NP_001308944.1:p.Ser712=
NM_001322007.2:c.2127G>T	NP_001308936.1:p.Ser709=