Canonical Allele Identifier: CA390513992

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745143A>T (hg19) ; chr14:g.77278800A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278800A>T , CM000676.2:g.77278800A>T	GRCh38
NC_000014.8:g.77745143A>T , CM000676.1:g.77745143A>T	GRCh37
NC_000014.7:g.76814896A>T	NCBI36
NG_008897.1:g.47083T>A , LRG_844:g.47083T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.886T>A
ENST00000556394.2:c.1502T>A	ENSP00000451967.2:p.Phe501Tyr
ENST00000682128.1:c.262T>A	ENSP00000506976.1:n.262T>A
ENST00000682247.1:c.1950T>A	ENSP00000507213.1:p.Val650=
ENST00000682395.1:n.2425T>A
ENST00000682459.1:n.1664T>A
ENST00000682467.1:c.1892-292T>A	ENSP00000508062.1:n.1892-292T>A
ENST00000682615.1:n.315T>A
ENST00000682795.1:c.2108T>A	ENSP00000507574.1:p.Phe703Tyr
ENST00000682895.1:n.1677T>A
ENST00000682955.1:n.1535T>A
ENST00000683095.1:c.367T>A	ENSP00000508040.1:n.367T>A
ENST00000683188.1:c.2222T>A
ENST00000683380.1:n.1625T>A
ENST00000683828.1:c.1670T>A
ENST00000683907.1:c.226T>A	ENSP00000507754.1:p.Phe76Ile
ENST00000684172.1:c.337T>A	ENSP00000508391.1:n.337T>A
ENST00000684259.1:n.3728T>A
ENST00000684538.1:n.1340T>A
ENST00000684549.1:n.1512T>A
ENST00000261534.9:c.1961T>A MANE Select	ENSP00000261534.4:p.Phe654Tyr
ENST00000261534.8:c.1961T>A	ENSP00000261534.4:p.Phe654Tyr
ENST00000452340.7:n.2937T>A
ENST00000554767.5:n.2747T>A
ENST00000555710.1:c.322T>A	ENSP00000451730.1:n.322T>A
ENST00000556171.1:c.553T>A
ENST00000556394.1:c.88-292T>A
ENST00000556446.1:n.262T>A
ENST00000602717.5:c.176T>A	ENSP00000487704.1:p.Phe59Tyr
NM_013382.5:c.1961T>A , LRG_844t1:c.1961T>A	NP_037514.2:p.Phe654Tyr
XM_011536675.1:c.2150T>A	XP_011534977.1:p.Phe717Tyr
XM_011536676.1:c.1817T>A	XP_011534978.1:p.Phe606Tyr
XM_011536677.1:c.1691T>A	XP_011534979.1:p.Phe564Tyr
XM_011536679.1:c.1244T>A	XP_011534981.1:p.Phe415Tyr
XR_943416.1:n.2214T>A
XM_011536675.2:c.2150T>A	XP_011534977.1:p.Phe717Tyr
XM_011536676.2:c.1817T>A	XP_011534978.1:p.Phe606Tyr
XM_011536677.3:c.1691T>A	XP_011534979.1:p.Phe564Tyr
XR_001750279.1:n.2247T>A
XR_001750282.1:n.2900T>A
XR_943416.3:n.2212T>A
NM_013382.6:c.1961T>A	NP_037514.2:p.Phe654Tyr
NM_013382.7:c.1961T>A MANE Select	NP_037514.2:p.Phe654Tyr