Canonical Allele Identifier: CA390513867

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745111G>T (hg19) ; chr14:g.77278768G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278768G>T , CM000676.2:g.77278768G>T	GRCh38
NC_000014.8:g.77745111G>T , CM000676.1:g.77745111G>T	GRCh37
NC_000014.7:g.76814864G>T	NCBI36
NG_008897.1:g.47115C>A , LRG_844:g.47115C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.918C>A
ENST00000556394.2:c.1534C>A	ENSP00000451967.2:p.His512Asn
ENST00000682128.1:c.294C>A	ENSP00000506976.1:n.294C>A
ENST00000682247.1:c.1982C>A	ENSP00000507213.1:p.Pro661Gln
ENST00000682395.1:n.2457C>A
ENST00000682459.1:n.1696C>A
ENST00000682467.1:c.1892-260C>A	ENSP00000508062.1:n.1892-260C>A
ENST00000682615.1:n.347C>A
ENST00000682795.1:c.2140C>A	ENSP00000507574.1:p.His714Asn
ENST00000682895.1:n.1709C>A
ENST00000682955.1:n.1567C>A
ENST00000683095.1:c.399C>A	ENSP00000508040.1:n.399C>A
ENST00000683188.1:c.2254C>A
ENST00000683380.1:n.1657C>A
ENST00000683907.1:c.258C>A	ENSP00000507754.1:n.258C>A
ENST00000684172.1:c.369C>A	ENSP00000508391.1:n.369C>A
ENST00000684259.1:n.3760C>A
ENST00000684538.1:n.1372C>A
ENST00000684549.1:n.1544C>A
ENST00000261534.9:c.1993C>A MANE Select	ENSP00000261534.4:p.His665Asn
ENST00000261534.8:c.1993C>A	ENSP00000261534.4:p.His665Asn
ENST00000452340.7:n.2969C>A
ENST00000554767.5:n.2779C>A
ENST00000555710.1:c.354C>A	ENSP00000451730.1:n.354C>A
ENST00000556394.1:c.88-260C>A
ENST00000556446.1:n.294C>A
ENST00000602717.5:c.208C>A	ENSP00000487704.1:p.His70Asn
NM_013382.5:c.1993C>A , LRG_844t1:c.1993C>A	NP_037514.2:p.His665Asn
XM_011536675.1:c.2182C>A	XP_011534977.1:p.His728Asn
XM_011536676.1:c.1849C>A	XP_011534978.1:p.His617Asn
XM_011536677.1:c.1723C>A	XP_011534979.1:p.His575Asn
XM_011536679.1:c.1276C>A	XP_011534981.1:p.His426Asn
XR_943416.1:n.2246C>A
XM_011536675.2:c.2182C>A	XP_011534977.1:p.His728Asn
XM_011536676.2:c.1849C>A	XP_011534978.1:p.His617Asn
XM_011536677.3:c.1723C>A	XP_011534979.1:p.His575Asn
XR_001750279.1:n.2279C>A
XR_001750282.1:n.2932C>A
XR_943416.3:n.2244C>A
NM_013382.6:c.1993C>A	NP_037514.2:p.His665Asn
NM_013382.7:c.1993C>A MANE Select	NP_037514.2:p.His665Asn