Canonical Allele Identifier: CA390514016

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745149A>T (hg19) ; chr14:g.77278806A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278806A>T , CM000676.2:g.77278806A>T	GRCh38
NC_000014.8:g.77745149A>T , CM000676.1:g.77745149A>T	GRCh37
NC_000014.7:g.76814902A>T	NCBI36
NG_008897.1:g.47077T>A , LRG_844:g.47077T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.880T>A
ENST00000556394.2:c.1496T>A	ENSP00000451967.2:p.Phe499Tyr
ENST00000682128.1:c.256T>A	ENSP00000506976.1:n.256T>A
ENST00000682247.1:c.1944T>A	ENSP00000507213.1:p.Leu648=
ENST00000682395.1:n.2419T>A
ENST00000682459.1:n.1658T>A
ENST00000682467.1:c.1892-298T>A	ENSP00000508062.1:n.1892-298T>A
ENST00000682615.1:n.309T>A
ENST00000682795.1:c.2102T>A	ENSP00000507574.1:p.Phe701Tyr
ENST00000682895.1:n.1671T>A
ENST00000682955.1:n.1529T>A
ENST00000683095.1:c.361T>A	ENSP00000508040.1:n.361T>A
ENST00000683188.1:c.2216T>A
ENST00000683380.1:n.1619T>A
ENST00000683828.1:c.1664T>A
ENST00000683907.1:c.220T>A	ENSP00000507754.1:p.Ser74Thr
ENST00000684172.1:c.331T>A	ENSP00000508391.1:n.331T>A
ENST00000684259.1:n.3722T>A
ENST00000684538.1:n.1334T>A
ENST00000684549.1:n.1506T>A
ENST00000261534.9:c.1955T>A MANE Select	ENSP00000261534.4:p.Phe652Tyr
ENST00000261534.8:c.1955T>A	ENSP00000261534.4:p.Phe652Tyr
ENST00000452340.7:n.2931T>A
ENST00000554767.5:n.2741T>A
ENST00000555710.1:c.316T>A	ENSP00000451730.1:n.316T>A
ENST00000556171.1:c.547T>A
ENST00000556394.1:c.88-298T>A
ENST00000556446.1:n.256T>A
ENST00000602717.5:c.170T>A	ENSP00000487704.1:p.Phe57Tyr
NM_013382.5:c.1955T>A , LRG_844t1:c.1955T>A	NP_037514.2:p.Phe652Tyr
XM_011536675.1:c.2144T>A	XP_011534977.1:p.Phe715Tyr
XM_011536676.1:c.1811T>A	XP_011534978.1:p.Phe604Tyr
XM_011536677.1:c.1685T>A	XP_011534979.1:p.Phe562Tyr
XM_011536679.1:c.1238T>A	XP_011534981.1:p.Phe413Tyr
XR_943416.1:n.2208T>A
XM_011536675.2:c.2144T>A	XP_011534977.1:p.Phe715Tyr
XM_011536676.2:c.1811T>A	XP_011534978.1:p.Phe604Tyr
XM_011536677.3:c.1685T>A	XP_011534979.1:p.Phe562Tyr
XR_001750279.1:n.2241T>A
XR_001750282.1:n.2894T>A
XR_943416.3:n.2206T>A
NM_013382.6:c.1955T>A	NP_037514.2:p.Phe652Tyr
NM_013382.7:c.1955T>A MANE Select	NP_037514.2:p.Phe652Tyr