Canonical Allele Identifier: CA390514083

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745164C>A (hg19) ; chr14:g.77278821C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278821C>A , CM000676.2:g.77278821C>A	GRCh38
NC_000014.8:g.77745164C>A , CM000676.1:g.77745164C>A	GRCh37
NC_000014.7:g.76814917C>A	NCBI36
NG_008897.1:g.47062G>T , LRG_844:g.47062G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.865G>T
ENST00000556394.2:c.1481G>T	ENSP00000451967.2:p.Trp494Leu
ENST00000682128.1:c.241G>T	ENSP00000506976.1:n.241G>T
ENST00000682247.1:c.1929G>T	ENSP00000507213.1:p.Leu643=
ENST00000682395.1:n.2404G>T
ENST00000682459.1:n.1643G>T
ENST00000682467.1:c.1892-313G>T	ENSP00000508062.1:n.1892-313G>T
ENST00000682615.1:n.294G>T
ENST00000682795.1:c.2087G>T	ENSP00000507574.1:p.Trp696Leu
ENST00000682895.1:n.1656G>T
ENST00000682955.1:n.1514G>T
ENST00000683095.1:c.346G>T	ENSP00000508040.1:n.346G>T
ENST00000683188.1:c.2201G>T
ENST00000683380.1:n.1604G>T
ENST00000683828.1:c.1649G>T
ENST00000683907.1:c.205G>T	ENSP00000507754.1:p.Gly69Ter
ENST00000684172.1:c.316G>T	ENSP00000508391.1:n.316G>T
ENST00000684259.1:n.3707G>T
ENST00000684538.1:n.1319G>T
ENST00000684549.1:n.1491G>T
ENST00000261534.9:c.1940G>T MANE Select	ENSP00000261534.4:p.Trp647Leu
ENST00000261534.8:c.1940G>T	ENSP00000261534.4:p.Trp647Leu
ENST00000452340.7:n.2916G>T
ENST00000554767.5:n.2726G>T
ENST00000555134.1:n.865G>T
ENST00000555710.1:c.301G>T	ENSP00000451730.1:n.301G>T
ENST00000556171.1:c.532G>T
ENST00000556394.1:c.88-313G>T
ENST00000556446.1:n.241G>T
ENST00000602717.5:c.155G>T	ENSP00000487704.1:p.Trp52Leu
NM_013382.5:c.1940G>T , LRG_844t1:c.1940G>T	NP_037514.2:p.Trp647Leu
XM_011536675.1:c.2129G>T	XP_011534977.1:p.Trp710Leu
XM_011536676.1:c.1796G>T	XP_011534978.1:p.Trp599Leu
XM_011536677.1:c.1670G>T	XP_011534979.1:p.Trp557Leu
XM_011536679.1:c.1223G>T	XP_011534981.1:p.Trp408Leu
XR_943416.1:n.2193G>T
XM_011536675.2:c.2129G>T	XP_011534977.1:p.Trp710Leu
XM_011536676.2:c.1796G>T	XP_011534978.1:p.Trp599Leu
XM_011536677.3:c.1670G>T	XP_011534979.1:p.Trp557Leu
XR_001750279.1:n.2226G>T
XR_001750282.1:n.2879G>T
XR_943416.3:n.2191G>T
NM_013382.6:c.1940G>T	NP_037514.2:p.Trp647Leu
NM_013382.7:c.1940G>T MANE Select	NP_037514.2:p.Trp647Leu