Canonical Allele Identifier: CA390517681

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753111G>T (hg19) ; chr14:g.77286768G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.849C>A	ENSP00000451967.2:p.His283Gln
ENST00000682247.1:c.1308C>A	ENSP00000507213.1:p.His436Gln
ENST00000682382.1:c.880C>A
ENST00000682395.1:n.1486C>A
ENST00000682459.1:n.1011C>A
ENST00000682467.1:c.1308C>A	ENSP00000508062.1:p.His436Gln
ENST00000682706.1:n.85C>A
ENST00000682795.1:c.1308C>A	ENSP00000507574.1:p.His436Gln
ENST00000682895.1:n.1024C>A
ENST00000682955.1:n.596C>A
ENST00000683188.1:c.1283C>A
ENST00000683328.1:c.301C>A	ENSP00000508096.1:n.301C>A
ENST00000683380.1:n.972C>A
ENST00000683828.1:c.1017C>A
ENST00000684259.1:n.1159C>A
ENST00000684444.1:c.55C>A
ENST00000684549.1:n.859C>A
ENST00000261534.9:c.1308C>A MANE Select	ENSP00000261534.4:p.His436Gln
ENST00000261534.8:c.1308C>A	ENSP00000261534.4:p.His436Gln
ENST00000452340.7:n.1331C>A
ENST00000553880.5:n.179C>A
ENST00000554767.5:n.2094C>A
ENST00000554884.5:n.300C>A
ENST00000556404.1:n.442C>A
ENST00000556851.1:n.344C>A
ENST00000557675.5:n.398C>A
NM_013382.5:c.1308C>A , LRG_844t1:c.1308C>A	NP_037514.2:p.His436Gln
XM_011536675.1:c.1308C>A	XP_011534977.1:p.His436Gln
XM_011536676.1:c.975C>A	XP_011534978.1:p.His325Gln
XM_011536677.1:c.849C>A	XP_011534979.1:p.His283Gln
XM_011536678.1:c.1308C>A	XP_011534980.1:p.His436Gln
XM_011536679.1:c.402C>A	XP_011534981.1:p.His134Gln
XR_943416.1:n.1511C>A
XM_011536675.2:c.1308C>A	XP_011534977.1:p.His436Gln
XM_011536676.2:c.975C>A	XP_011534978.1:p.His325Gln
XM_011536677.3:c.849C>A	XP_011534979.1:p.His283Gln
XR_001750279.1:n.1508C>A
XR_001750282.1:n.1961C>A
XR_943416.3:n.1509C>A
NM_013382.6:c.1308C>A	NP_037514.2:p.His436Gln
NM_013382.7:c.1308C>A MANE Select	NP_037514.2:p.His436Gln