Canonical Allele Identifier: CA390513863

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.918C>T
ENST00000556394.2:c.1534C>T	ENSP00000451967.2:p.His512Tyr
ENST00000682128.1:c.294C>T	ENSP00000506976.1:n.294C>T
ENST00000682247.1:c.1982C>T	ENSP00000507213.1:p.Pro661Leu
ENST00000682395.1:n.2457C>T
ENST00000682459.1:n.1696C>T
ENST00000682467.1:c.1892-260C>T	ENSP00000508062.1:n.1892-260C>T
ENST00000682615.1:n.347C>T
ENST00000682795.1:c.2140C>T	ENSP00000507574.1:p.His714Tyr
ENST00000682895.1:n.1709C>T
ENST00000682955.1:n.1567C>T
ENST00000683095.1:c.399C>T	ENSP00000508040.1:n.399C>T
ENST00000683188.1:c.2254C>T
ENST00000683380.1:n.1657C>T
ENST00000683907.1:c.258C>T	ENSP00000507754.1:n.258C>T
ENST00000684172.1:c.369C>T	ENSP00000508391.1:n.369C>T
ENST00000684259.1:n.3760C>T
ENST00000684538.1:n.1372C>T
ENST00000684549.1:n.1544C>T
ENST00000261534.9:c.1993C>T MANE Select	ENSP00000261534.4:p.His665Tyr
ENST00000261534.8:c.1993C>T	ENSP00000261534.4:p.His665Tyr
ENST00000452340.7:n.2969C>T
ENST00000554767.5:n.2779C>T
ENST00000555710.1:c.354C>T	ENSP00000451730.1:n.354C>T
ENST00000556394.1:c.88-260C>T
ENST00000556446.1:n.294C>T
ENST00000602717.5:c.208C>T	ENSP00000487704.1:p.His70Tyr
NM_013382.5:c.1993C>T , LRG_844t1:c.1993C>T	NP_037514.2:p.His665Tyr
XM_011536675.1:c.2182C>T	XP_011534977.1:p.His728Tyr
XM_011536676.1:c.1849C>T	XP_011534978.1:p.His617Tyr
XM_011536677.1:c.1723C>T	XP_011534979.1:p.His575Tyr
XM_011536679.1:c.1276C>T	XP_011534981.1:p.His426Tyr
XR_943416.1:n.2246C>T
XM_011536675.2:c.2182C>T	XP_011534977.1:p.His728Tyr
XM_011536676.2:c.1849C>T	XP_011534978.1:p.His617Tyr
XM_011536677.3:c.1723C>T	XP_011534979.1:p.His575Tyr
XR_001750279.1:n.2279C>T
XR_001750282.1:n.2932C>T
XR_943416.3:n.2244C>T
NM_013382.6:c.1993C>T	NP_037514.2:p.His665Tyr
NM_013382.7:c.1993C>T MANE Select	NP_037514.2:p.His665Tyr