Canonical Allele Identifier: CA263824237

Gene: POMT2

Linked Data

• dbSNP Id: rs1047670195
• MyVariant Identifiers: chr14:g.77753111G>A (hg19) ; chr14:g.77286768G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286768G>A , CM000676.2:g.77286768G>A	GRCh38
NC_000014.8:g.77753111G>A , CM000676.1:g.77753111G>A	GRCh37
NC_000014.7:g.76822864G>A	NCBI36
NG_008897.1:g.39115C>T , LRG_844:g.39115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.849C>T	ENSP00000451967.2:p.His283=
ENST00000682247.1:c.1308C>T	ENSP00000507213.1:p.His436=
ENST00000682382.1:c.880C>T
ENST00000682395.1:n.1486C>T
ENST00000682459.1:n.1011C>T
ENST00000682467.1:c.1308C>T	ENSP00000508062.1:p.His436=
ENST00000682706.1:n.85C>T
ENST00000682795.1:c.1308C>T	ENSP00000507574.1:p.His436=
ENST00000682895.1:n.1024C>T
ENST00000682955.1:n.596C>T
ENST00000683188.1:c.1283C>T
ENST00000683328.1:c.301C>T	ENSP00000508096.1:n.301C>T
ENST00000683380.1:n.972C>T
ENST00000683828.1:c.1017C>T
ENST00000684259.1:n.1159C>T
ENST00000684444.1:c.55C>T
ENST00000684549.1:n.859C>T
ENST00000261534.9:c.1308C>T MANE Select	ENSP00000261534.4:p.His436=
ENST00000261534.8:c.1308C>T	ENSP00000261534.4:p.His436=
ENST00000452340.7:n.1331C>T
ENST00000553880.5:n.179C>T
ENST00000554767.5:n.2094C>T
ENST00000554884.5:n.300C>T
ENST00000556404.1:n.442C>T
ENST00000556851.1:n.344C>T
ENST00000557675.5:n.398C>T
NM_013382.5:c.1308C>T , LRG_844t1:c.1308C>T	NP_037514.2:p.His436=
XM_011536675.1:c.1308C>T	XP_011534977.1:p.His436=
XM_011536676.1:c.975C>T	XP_011534978.1:p.His325=
XM_011536677.1:c.849C>T	XP_011534979.1:p.His283=
XM_011536678.1:c.1308C>T	XP_011534980.1:p.His436=
XM_011536679.1:c.402C>T	XP_011534981.1:p.His134=
XR_943416.1:n.1511C>T
XM_011536675.2:c.1308C>T	XP_011534977.1:p.His436=
XM_011536676.2:c.975C>T	XP_011534978.1:p.His325=
XM_011536677.3:c.849C>T	XP_011534979.1:p.His283=
XR_001750279.1:n.1508C>T
XR_001750282.1:n.1961C>T
XR_943416.3:n.1509C>T
NM_013382.6:c.1308C>T	NP_037514.2:p.His436=
NM_013382.7:c.1308C>T MANE Select	NP_037514.2:p.His436=