Canonical Allele Identifier: CA366742764

Gene: PMS2

Linked Data

• dbSNP Id: rs2128747215
• MyVariant Identifiers: chr7:g.6029454T>A (hg19) ; chr7:g.5989823T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5989823T>A , CM000669.2:g.5989823T>A	GRCh38
NC_000007.13:g.6029454T>A , CM000669.1:g.6029454T>A	GRCh37
NC_000007.12:g.5995980T>A	NCBI36
NG_008466.1:g.24284A>T , LRG_161:g.24284A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*517A>T	ENSP00000514615.2:n.*517A>T
ENST00000699840.2:c.1118A>T	ENSP00000514638.2:p.Gln373Leu
ENST00000699930.2:c.1013A>T	ENSP00000514695.2:p.Gln338Leu
ENST00000406569.8:c.1121A>T	ENSP00000514464.1:p.Gln374Leu
ENST00000644110.2:c.*715A>T	ENSP00000496392.2:n.*715A>T
ENST00000699752.1:c.988+2150A>T	ENSP00000514561.1:n.988+2150A>T
ENST00000699753.1:c.*542A>T	ENSP00000514562.1:n.*542A>T
ENST00000699754.1:c.923A>T	ENSP00000514563.1:p.Gln308Leu
ENST00000699755.1:c.*520A>T	ENSP00000514564.1:n.*520A>T
ENST00000699756.1:c.*708A>T	ENSP00000514565.1:n.*708A>T
ENST00000699757.1:c.*378A>T	ENSP00000514566.1:n.*378A>T
ENST00000699758.1:c.*378A>T	ENSP00000514567.1:n.*378A>T
ENST00000699759.1:n.1975A>T
ENST00000699760.1:c.803A>T	ENSP00000514568.1:p.Gln268Leu
ENST00000699761.1:c.716A>T	ENSP00000514569.1:p.Gln239Leu
ENST00000699762.1:c.548A>T	ENSP00000514570.1:p.Gln183Leu
ENST00000699763.1:c.*211A>T	ENSP00000514571.1:n.*211A>T
ENST00000699764.1:c.1121A>T	ENSP00000514572.1:p.Gln374Leu
ENST00000699765.1:c.*217A>T	ENSP00000514573.1:n.*217A>T
ENST00000699766.1:c.1121A>T	ENSP00000514574.1:p.Gln374Leu
ENST00000699767.1:c.1121A>T	ENSP00000514575.1:p.Gln374Leu
ENST00000699768.1:c.1121A>T	ENSP00000514576.1:p.Gln374Leu
ENST00000699811.1:c.716A>T	ENSP00000514614.1:p.Gln239Leu
ENST00000699813.1:n.1234A>T
ENST00000699814.1:c.744A>T
ENST00000699815.1:c.*613A>T	ENSP00000514616.1:n.*613A>T
ENST00000699816.1:c.716A>T	ENSP00000514617.1:p.Gln239Leu
ENST00000699817.1:c.*715A>T	ENSP00000514618.1:n.*715A>T
ENST00000699818.1:c.716A>T	ENSP00000514619.1:p.Gln239Leu
ENST00000699819.1:c.*278A>T	ENSP00000514620.1:n.*278A>T
ENST00000699820.1:c.1121A>T	ENSP00000514621.1:p.Gln374Leu
ENST00000699821.1:c.716A>T	ENSP00000514622.1:p.Gln239Leu
ENST00000699822.1:c.*573A>T	ENSP00000514623.1:n.*573A>T
ENST00000699823.1:c.716A>T	ENSP00000514624.1:p.Gln239Leu
ENST00000699824.1:c.*624A>T	ENSP00000514625.1:n.*624A>T
ENST00000699825.1:c.583+2150A>T	ENSP00000514626.1:n.583+2150A>T
ENST00000699826.1:c.*520A>T	ENSP00000514627.1:n.*520A>T
ENST00000699827.1:c.953A>T	ENSP00000514628.1:p.Gln318Leu
ENST00000699828.1:c.*211A>T	ENSP00000514629.1:n.*211A>T
ENST00000699829.1:c.*622A>T	ENSP00000514630.1:n.*622A>T
ENST00000699830.1:c.*520A>T	ENSP00000514631.1:n.*520A>T
ENST00000699833.1:n.2893A>T
ENST00000699837.1:c.716A>T	ENSP00000514635.1:p.Gln239Leu
ENST00000699838.1:c.*1021A>T	ENSP00000514636.1:n.*1021A>T
ENST00000699839.1:c.1307A>T	ENSP00000514637.1:p.Gln436Leu
ENST00000699840.1:c.1118A>T	ENSP00000514638.1:p.Gln373Leu
ENST00000699916.1:c.*378A>T	ENSP00000514684.1:n.*378A>T
ENST00000699917.1:c.*570A>T	ENSP00000514685.1:n.*570A>T
ENST00000699918.1:c.*622A>T	ENSP00000514686.1:n.*622A>T
ENST00000699919.1:c.*708A>T	ENSP00000514687.1:n.*708A>T
ENST00000699920.1:c.*757A>T	ENSP00000514688.1:n.*757A>T
ENST00000699928.1:c.988+2150A>T	ENSP00000514693.1:n.988+2150A>T
ENST00000699929.1:c.*422A>T	ENSP00000514694.1:n.*422A>T
ENST00000699930.1:c.1013A>T	ENSP00000514695.1:p.Gln338Leu
ENST00000699931.1:n.2549A>T
ENST00000699932.1:c.*339A>T	ENSP00000514696.1:n.*339A>T
ENST00000699933.1:n.1101A>T
ENST00000699951.1:c.*217A>T	ENSP00000514706.1:n.*217A>T
ENST00000699952.1:c.803+7503A>T	ENSP00000514707.1:n.803+7503A>T
ENST00000699953.1:c.*228A>T	ENSP00000514708.1:n.*228A>T
ENST00000699954.1:c.*422A>T	ENSP00000514709.1:n.*422A>T
ENST00000265849.12:c.1121A>T MANE Select	ENSP00000265849.7:p.Gln374Leu
ENST00000642292.1:c.716A>T	ENSP00000495524.1:p.Gln239Leu
ENST00000642456.1:c.716A>T	ENSP00000493814.1:p.Gln239Leu
ENST00000643595.1:c.*520A>T	ENSP00000494497.1:n.*520A>T
ENST00000644110.1:c.803A>T	ENSP00000496392.1:p.Gln268Leu
ENST00000265849.11:c.1121A>T	ENSP00000265849.7:p.Gln374Leu
ENST00000382321.5:c.804-6832A>T	ENSP00000371758.4:n.804-6832A>T
ENST00000406569.7:n.1121A>T
ENST00000441476.6:c.803A>T	ENSP00000392843.2:p.Gln268Leu
ENST00000469652.1:n.63-6918A>T
NM_000535.5:c.1121A>T , LRG_161t1:c.1121A>T	NP_000526.1:p.Gln374Leu
NR_003085.2:n.1203A>T
XM_006715742.2:c.1115A>T	XP_006715805.1:p.Gln372Leu
XM_006715744.2:c.188A>T	XP_006715807.1:p.Gln63Leu
XM_011515427.1:c.1166A>T	XP_011513729.1:p.Gln389Leu
XM_011515428.1:c.1033+2150A>T	XP_011513730.1:n.1033+2150A>T
XM_011515429.1:c.803A>T	XP_011513731.1:p.Gln268Leu
XM_011515430.1:c.803A>T	XP_011513732.1:p.Gln268Leu
NM_000535.6:c.1121A>T	NP_000526.2:p.Gln374Leu
NM_001322003.1:c.716A>T	NP_001308932.1:p.Gln239Leu
NM_001322004.1:c.716A>T	NP_001308933.1:p.Gln239Leu
NM_001322005.1:c.716A>T	NP_001308934.1:p.Gln239Leu
NM_001322006.1:c.988+2150A>T	NP_001308935.1:n.988+2150A>T
NM_001322007.1:c.803A>T	NP_001308936.1:p.Gln268Leu
NM_001322008.1:c.803A>T	NP_001308937.1:p.Gln268Leu
NM_001322009.1:c.716A>T	NP_001308938.1:p.Gln239Leu
NM_001322010.1:c.583+2150A>T	NP_001308939.1:n.583+2150A>T
NM_001322011.1:c.188A>T	NP_001308940.1:p.Gln63Leu
NM_001322012.1:c.188A>T	NP_001308941.1:p.Gln63Leu
NM_001322013.1:c.548A>T	NP_001308942.1:p.Gln183Leu
NM_001322014.1:c.1121A>T	NP_001308943.1:p.Gln374Leu
NM_001322015.1:c.812A>T	NP_001308944.1:p.Gln271Leu
NR_136154.1:n.1208A>T
XM_006715744.4:c.188A>T	XP_006715807.1:p.Gln63Leu
XM_017012342.2:c.188A>T	XP_016867831.1:p.Gln63Leu
XM_024446800.1:c.583+2150A>T	XP_024302568.1:n.583+2150A>T
NM_000535.7:c.1121A>T MANE Select	NP_000526.2:p.Gln374Leu
NM_001322003.2:c.716A>T	NP_001308932.1:p.Gln239Leu
NM_001322004.2:c.716A>T	NP_001308933.1:p.Gln239Leu
NM_001322005.2:c.716A>T	NP_001308934.1:p.Gln239Leu
NM_001322006.2:c.988+2150A>T	NP_001308935.1:n.988+2150A>T
NM_001322008.2:c.803A>T	NP_001308937.1:p.Gln268Leu
NM_001322009.2:c.716A>T	NP_001308938.1:p.Gln239Leu
NM_001322010.2:c.583+2150A>T	NP_001308939.1:n.583+2150A>T
NM_001322011.2:c.188A>T	NP_001308940.1:p.Gln63Leu
NM_001322012.2:c.188A>T	NP_001308941.1:p.Gln63Leu
NM_001322013.2:c.548A>T	NP_001308942.1:p.Gln183Leu
NM_001322014.2:c.1121A>T	NP_001308943.1:p.Gln374Leu
NM_001322015.2:c.812A>T	NP_001308944.1:p.Gln271Leu
NM_001322007.2:c.803A>T	NP_001308936.1:p.Gln268Leu