Canonical Allele Identifier: CA2148330106

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286767A= , CM000676.2:g.77286767A=	GRCh38
NC_000014.8:g.77753110A= , CM000676.1:g.77753110A=	GRCh37
NC_000014.7:g.76822863A=	NCBI36
NG_008897.1:g.39116T= , LRG_844:g.39116T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.850T=	ENSP00000451967.2:p.Tyr284=
ENST00000682247.1:c.1309T=	ENSP00000507213.1:p.Tyr437=
ENST00000682382.1:c.881T=
ENST00000682395.1:n.1487T=
ENST00000682459.1:n.1012T=
ENST00000682467.1:c.1309T=	ENSP00000508062.1:p.Tyr437=
ENST00000682706.1:n.86T=
ENST00000682795.1:c.1309T=	ENSP00000507574.1:p.Tyr437=
ENST00000682895.1:n.1025T=
ENST00000682955.1:n.597T=
ENST00000683188.1:c.1284T=
ENST00000683328.1:c.302T=	ENSP00000508096.1:n.302T=
ENST00000683380.1:n.973T=
ENST00000683828.1:c.1018T=
ENST00000684259.1:n.1160T=
ENST00000684444.1:c.56T=
ENST00000684549.1:n.860T=
ENST00000261534.9:c.1309T= MANE Select	ENSP00000261534.4:p.Tyr437=
ENST00000261534.8:c.1309T=	ENSP00000261534.4:p.Tyr437=
ENST00000452340.7:n.1332T=
ENST00000553880.5:n.180T=
ENST00000554767.5:n.2095T=
ENST00000554884.5:n.301T=
ENST00000556404.1:n.443T=
ENST00000556851.1:n.345T=
ENST00000557675.5:n.399T=
NM_013382.5:c.1309T= , LRG_844t1:c.1309T=	NP_037514.2:p.Tyr437=
XM_011536675.1:c.1309T=	XP_011534977.1:p.Tyr437=
XM_011536676.1:c.976T=	XP_011534978.1:p.Tyr326=
XM_011536677.1:c.850T=	XP_011534979.1:p.Tyr284=
XM_011536678.1:c.1309T=	XP_011534980.1:p.Tyr437=
XM_011536679.1:c.403T=	XP_011534981.1:p.Tyr135=
XR_943416.1:n.1512T=
XM_011536675.2:c.1309T=	XP_011534977.1:p.Tyr437=
XM_011536676.2:c.976T=	XP_011534978.1:p.Tyr326=
XM_011536677.3:c.850T=	XP_011534979.1:p.Tyr284=
XR_001750279.1:n.1509T=
XR_001750282.1:n.1962T=
XR_943416.3:n.1510T=
NM_013382.6:c.1309T=	NP_037514.2:p.Tyr437=
NM_013382.7:c.1309T= MANE Select	NP_037514.2:p.Tyr437=