Canonical Allele Identifier: CA487324834

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77765042G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77298699G>A , CM000676.2:g.77298699G>A	GRCh38
NC_000014.8:g.77765042G>A , CM000676.1:g.77765042G>A	GRCh37
NC_000014.7:g.76834795G>A	NCBI36
NG_008897.1:g.27184C>T , LRG_844:g.27184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.537C>T	ENSP00000451967.2:p.Ser179=
ENST00000557289.2:c.294C>T
ENST00000682247.1:c.996C>T	ENSP00000507213.1:p.Ser332=
ENST00000682382.1:c.568C>T
ENST00000682395.1:n.725C>T
ENST00000682459.1:n.660C>T
ENST00000682467.1:c.996C>T	ENSP00000508062.1:p.Ser332=
ENST00000682795.1:c.996C>T	ENSP00000507574.1:p.Ser332=
ENST00000682895.1:n.712C>T
ENST00000682955.1:n.284C>T
ENST00000683188.1:c.522C>T
ENST00000683300.1:c.110-2426C>T	ENSP00000507630.1:n.110-2426C>T
ENST00000683328.1:c.109+5993C>T	ENSP00000508096.1:n.109+5993C>T
ENST00000683380.1:n.660C>T
ENST00000683551.1:c.182C>T
ENST00000683828.1:c.705C>T
ENST00000684259.1:n.847C>T
ENST00000684549.1:n.547C>T
ENST00000684554.1:c.233C>T
ENST00000261534.9:c.996C>T MANE Select	ENSP00000261534.4:p.Ser332=
ENST00000261534.8:c.996C>T	ENSP00000261534.4:p.Ser332=
ENST00000452340.7:n.1019C>T
ENST00000554767.5:n.1782C>T
ENST00000557289.1:c.235C>T	ENSP00000451115.1:n.235C>T
NM_013382.5:c.996C>T , LRG_844t1:c.996C>T	NP_037514.2:p.Ser332=
XM_011536675.1:c.996C>T	XP_011534977.1:p.Ser332=
XM_011536676.1:c.663C>T	XP_011534978.1:p.Ser221=
XM_011536677.1:c.548-2426C>T	XP_011534979.1:n.548-2426C>T
XM_011536678.1:c.996C>T	XP_011534980.1:p.Ser332=
XM_011536679.1:c.90C>T	XP_011534981.1:p.Ser30=
XM_011536680.1:c.996C>T	XP_011534982.1:p.Ser332=
XR_943416.1:n.1199C>T
XM_011536675.2:c.996C>T	XP_011534977.1:p.Ser332=
XM_011536676.2:c.663C>T	XP_011534978.1:p.Ser221=
XM_011536677.3:c.548-2426C>T	XP_011534979.1:n.548-2426C>T
XR_001750279.1:n.1196C>T
XR_001750282.1:n.1200C>T
XR_943416.3:n.1197C>T
NM_013382.6:c.996C>T	NP_037514.2:p.Ser332=
NM_013382.7:c.996C>T MANE Select	NP_037514.2:p.Ser332=