Canonical Allele Identifier: CA2148330056

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286752A= , CM000676.2:g.77286752A=	GRCh38
NC_000014.8:g.77753095A= , CM000676.1:g.77753095A=	GRCh37
NC_000014.7:g.76822848A=	NCBI36
NG_008897.1:g.39131T= , LRG_844:g.39131T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.865T=	ENSP00000451967.2:p.Tyr289=
ENST00000682247.1:c.1324T=	ENSP00000507213.1:p.Tyr442=
ENST00000682382.1:c.896T=
ENST00000682395.1:n.1502T=
ENST00000682459.1:n.1027T=
ENST00000682467.1:c.1324T=	ENSP00000508062.1:p.Tyr442=
ENST00000682706.1:n.101T=
ENST00000682795.1:c.1324T=	ENSP00000507574.1:p.Tyr442=
ENST00000682895.1:n.1040T=
ENST00000682955.1:n.612T=
ENST00000683188.1:c.1299T=
ENST00000683328.1:c.317T=	ENSP00000508096.1:n.317T=
ENST00000683380.1:n.988T=
ENST00000683828.1:c.1033T=
ENST00000684259.1:n.1175T=
ENST00000684444.1:c.71T=
ENST00000684549.1:n.875T=
ENST00000261534.9:c.1324T= MANE Select	ENSP00000261534.4:p.Tyr442=
ENST00000261534.8:c.1324T=	ENSP00000261534.4:p.Tyr442=
ENST00000452340.7:n.1347T=
ENST00000553880.5:n.195T=
ENST00000554767.5:n.2110T=
ENST00000554884.5:n.316T=
ENST00000556404.1:n.458T=
ENST00000556851.1:n.360T=
ENST00000557675.5:n.414T=
NM_013382.5:c.1324T= , LRG_844t1:c.1324T=	NP_037514.2:p.Tyr442=
XM_011536675.1:c.1324T=	XP_011534977.1:p.Tyr442=
XM_011536676.1:c.991T=	XP_011534978.1:p.Tyr331=
XM_011536677.1:c.865T=	XP_011534979.1:p.Tyr289=
XM_011536678.1:c.1324T=	XP_011534980.1:p.Tyr442=
XM_011536679.1:c.418T=	XP_011534981.1:p.Tyr140=
XR_943416.1:n.1527T=
XM_011536675.2:c.1324T=	XP_011534977.1:p.Tyr442=
XM_011536676.2:c.991T=	XP_011534978.1:p.Tyr331=
XM_011536677.3:c.865T=	XP_011534979.1:p.Tyr289=
XR_001750279.1:n.1524T=
XR_001750282.1:n.1977T=
XR_943416.3:n.1525T=
NM_013382.6:c.1324T=	NP_037514.2:p.Tyr442=
NM_013382.7:c.1324T= MANE Select	NP_037514.2:p.Tyr442=