Canonical Allele Identifier: CA366735907

Gene: PMS2

Linked Data

• dbSNP Id: rs2128674336
• MyVariant Identifiers: chr7:g.6017320C>A (hg19) ; chr7:g.5977689C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977689C>A , CM000669.2:g.5977689C>A	GRCh38
NC_000007.13:g.6017320C>A , CM000669.1:g.6017320C>A	GRCh37
NC_000007.12:g.5983846C>A	NCBI36
NG_008466.1:g.36418G>T , LRG_161:g.36418G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1740G>T	ENSP00000514615.2:n.*1740G>T
ENST00000699840.2:c.2341G>T	ENSP00000514638.2:p.Asp781Tyr
ENST00000699930.2:c.2236G>T	ENSP00000514695.2:p.Asp746Tyr
ENST00000406569.8:c.1704G>T	ENSP00000514464.1:p.Arg568Ser
ENST00000644110.2:c.*1938G>T	ENSP00000496392.2:n.*1938G>T
ENST00000699752.1:c.2188G>T	ENSP00000514561.1:p.Asp730Tyr
ENST00000699753.1:c.*1765G>T	ENSP00000514562.1:n.*1765G>T
ENST00000699754.1:c.2146G>T	ENSP00000514563.1:p.Asp716Tyr
ENST00000699755.1:c.*1743G>T	ENSP00000514564.1:n.*1743G>T
ENST00000699756.1:c.*1931G>T	ENSP00000514565.1:n.*1931G>T
ENST00000699757.1:c.*1601G>T	ENSP00000514566.1:n.*1601G>T
ENST00000699758.1:c.*1601G>T	ENSP00000514567.1:n.*1601G>T
ENST00000699759.1:n.3198G>T
ENST00000699760.1:c.2026G>T	ENSP00000514568.1:p.Asp676Tyr
ENST00000699761.1:c.1939G>T	ENSP00000514569.1:p.Asp647Tyr
ENST00000699762.1:c.1771G>T	ENSP00000514570.1:p.Asp591Tyr
ENST00000699763.1:c.*1434G>T	ENSP00000514571.1:n.*1434G>T
ENST00000699764.1:c.*662G>T	ENSP00000514572.1:n.*662G>T
ENST00000699765.1:c.*1339G>T	ENSP00000514573.1:n.*1339G>T
ENST00000699766.1:c.2377G>T	ENSP00000514574.1:p.Asp793Tyr
ENST00000699767.1:c.2301G>T	ENSP00000514575.1:p.Arg767Ser
ENST00000699768.1:c.2200G>T	ENSP00000514576.1:p.Asp734Tyr
ENST00000699811.1:c.1939G>T	ENSP00000514614.1:p.Asp647Tyr
ENST00000699813.1:n.2457G>T
ENST00000699814.1:c.1967G>T
ENST00000699815.1:c.*1875G>T	ENSP00000514616.1:n.*1875G>T
ENST00000699816.1:c.*1234G>T	ENSP00000514617.1:n.*1234G>T
ENST00000699817.1:c.*1938G>T	ENSP00000514618.1:n.*1938G>T
ENST00000699818.1:c.1939G>T	ENSP00000514619.1:p.Asp647Tyr
ENST00000699819.1:c.*1501G>T	ENSP00000514620.1:n.*1501G>T
ENST00000699820.1:c.*282G>T	ENSP00000514621.1:n.*282G>T
ENST00000699821.1:c.1972G>T	ENSP00000514622.1:p.Asp658Tyr
ENST00000699822.1:c.*1796G>T	ENSP00000514623.1:n.*1796G>T
ENST00000699823.1:c.1939G>T	ENSP00000514624.1:p.Asp647Tyr
ENST00000699824.1:c.*1847G>T	ENSP00000514625.1:n.*1847G>T
ENST00000699825.1:c.1783G>T	ENSP00000514626.1:p.Asp595Tyr
ENST00000699826.1:c.*1743G>T	ENSP00000514627.1:n.*1743G>T
ENST00000699827.1:c.2176G>T	ENSP00000514628.1:p.Asp726Tyr
ENST00000699828.1:c.*1434G>T	ENSP00000514629.1:n.*1434G>T
ENST00000699833.1:n.4116G>T
ENST00000699837.1:c.1939G>T	ENSP00000514635.1:p.Asp647Tyr
ENST00000699838.1:c.*2244G>T	ENSP00000514636.1:n.*2244G>T
ENST00000699839.1:c.2530G>T	ENSP00000514637.1:p.Asp844Tyr
ENST00000699916.1:c.*1601G>T	ENSP00000514684.1:n.*1601G>T
ENST00000699917.1:c.*1793G>T	ENSP00000514685.1:n.*1793G>T
ENST00000699918.1:c.*1845G>T	ENSP00000514686.1:n.*1845G>T
ENST00000699919.1:c.*1931G>T	ENSP00000514687.1:n.*1931G>T
ENST00000699920.1:c.*1980G>T	ENSP00000514688.1:n.*1980G>T
ENST00000699928.1:c.*282G>T	ENSP00000514693.1:n.*282G>T
ENST00000699951.1:c.*1397G>T	ENSP00000514706.1:n.*1397G>T
ENST00000699952.1:c.804-4147G>T	ENSP00000514707.1:n.804-4147G>T
ENST00000265849.12:c.2344G>T MANE Select	ENSP00000265849.7:p.Asp782Tyr
ENST00000642292.1:c.1939G>T	ENSP00000495524.1:p.Asp647Tyr
ENST00000642456.1:c.1939G>T	ENSP00000493814.1:p.Asp647Tyr
ENST00000643595.1:c.*1743G>T	ENSP00000494497.1:n.*1743G>T
ENST00000644110.1:c.2026G>T	ENSP00000496392.1:p.Asp676Tyr
ENST00000265849.11:c.2344G>T	ENSP00000265849.7:p.Asp782Tyr
ENST00000382321.5:c.1141G>T	ENSP00000371758.4:p.Asp381Tyr
ENST00000406569.7:n.1704G>T
ENST00000441476.6:c.2026G>T	ENSP00000392843.2:p.Asp676Tyr
NM_000535.5:c.2344G>T , LRG_161t1:c.2344G>T	NP_000526.1:p.Asp782Tyr
NR_003085.2:n.2426G>T
XM_006715742.2:c.2338G>T	XP_006715805.1:p.Asp780Tyr
XM_006715744.2:c.1411G>T	XP_006715807.1:p.Asp471Tyr
XM_011515427.1:c.2389G>T	XP_011513729.1:p.Asp797Tyr
XM_011515428.1:c.2233G>T	XP_011513730.1:p.Asp745Tyr
XM_011515429.1:c.2026G>T	XP_011513731.1:p.Asp676Tyr
XM_011515430.1:c.2026G>T	XP_011513732.1:p.Asp676Tyr
NM_000535.6:c.2344G>T	NP_000526.2:p.Asp782Tyr
NM_001322003.1:c.1939G>T	NP_001308932.1:p.Asp647Tyr
NM_001322004.1:c.1939G>T	NP_001308933.1:p.Asp647Tyr
NM_001322005.1:c.1939G>T	NP_001308934.1:p.Asp647Tyr
NM_001322006.1:c.2188G>T	NP_001308935.1:p.Asp730Tyr
NM_001322007.1:c.2026G>T	NP_001308936.1:p.Asp676Tyr
NM_001322008.1:c.2026G>T	NP_001308937.1:p.Asp676Tyr
NM_001322009.1:c.1972G>T	NP_001308938.1:p.Asp658Tyr
NM_001322010.1:c.1783G>T	NP_001308939.1:p.Asp595Tyr
NM_001322011.1:c.1411G>T	NP_001308940.1:p.Asp471Tyr
NM_001322012.1:c.1411G>T	NP_001308941.1:p.Asp471Tyr
NM_001322013.1:c.1771G>T	NP_001308942.1:p.Asp591Tyr
NM_001322014.1:c.2377G>T	NP_001308943.1:p.Asp793Tyr
NM_001322015.1:c.2035G>T	NP_001308944.1:p.Asp679Tyr
NR_136154.1:n.2388G>T
XM_006715744.4:c.1411G>T	XP_006715807.1:p.Asp471Tyr
XM_017012342.2:c.1411G>T	XP_016867831.1:p.Asp471Tyr
XM_024446800.1:c.1783G>T	XP_024302568.1:p.Asp595Tyr
NM_000535.7:c.2344G>T MANE Select	NP_000526.2:p.Asp782Tyr
NM_001322003.2:c.1939G>T	NP_001308932.1:p.Asp647Tyr
NM_001322004.2:c.1939G>T	NP_001308933.1:p.Asp647Tyr
NM_001322005.2:c.1939G>T	NP_001308934.1:p.Asp647Tyr
NM_001322006.2:c.2188G>T	NP_001308935.1:p.Asp730Tyr
NM_001322008.2:c.2026G>T	NP_001308937.1:p.Asp676Tyr
NM_001322009.2:c.1972G>T	NP_001308938.1:p.Asp658Tyr
NM_001322010.2:c.1783G>T	NP_001308939.1:p.Asp595Tyr
NM_001322011.2:c.1411G>T	NP_001308940.1:p.Asp471Tyr
NM_001322012.2:c.1411G>T	NP_001308941.1:p.Asp471Tyr
NM_001322013.2:c.1771G>T	NP_001308942.1:p.Asp591Tyr
NM_001322014.2:c.2377G>T	NP_001308943.1:p.Asp793Tyr
NM_001322015.2:c.2035G>T	NP_001308944.1:p.Asp679Tyr
NM_001322007.2:c.2026G>T	NP_001308936.1:p.Asp676Tyr