Canonical Allele Identifier: CA390513911

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745120A>T (hg19) ; chr14:g.77278777A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278777A>T , CM000676.2:g.77278777A>T	GRCh38
NC_000014.8:g.77745120A>T , CM000676.1:g.77745120A>T	GRCh37
NC_000014.7:g.76814873A>T	NCBI36
NG_008897.1:g.47106T>A , LRG_844:g.47106T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.909T>A
ENST00000556394.2:c.1525T>A	ENSP00000451967.2:p.Tyr509Asn
ENST00000682128.1:c.285T>A	ENSP00000506976.1:n.285T>A
ENST00000682247.1:c.1973T>A	ENSP00000507213.1:p.Leu658Gln
ENST00000682395.1:n.2448T>A
ENST00000682459.1:n.1687T>A
ENST00000682467.1:c.1892-269T>A	ENSP00000508062.1:n.1892-269T>A
ENST00000682615.1:n.338T>A
ENST00000682795.1:c.2131T>A	ENSP00000507574.1:p.Tyr711Asn
ENST00000682895.1:n.1700T>A
ENST00000682955.1:n.1558T>A
ENST00000683095.1:c.390T>A	ENSP00000508040.1:n.390T>A
ENST00000683188.1:c.2245T>A
ENST00000683380.1:n.1648T>A
ENST00000683907.1:c.249T>A	ENSP00000507754.1:n.249T>A
ENST00000684172.1:c.360T>A	ENSP00000508391.1:n.360T>A
ENST00000684259.1:n.3751T>A
ENST00000684538.1:n.1363T>A
ENST00000684549.1:n.1535T>A
ENST00000261534.9:c.1984T>A MANE Select	ENSP00000261534.4:p.Tyr662Asn
ENST00000261534.8:c.1984T>A	ENSP00000261534.4:p.Tyr662Asn
ENST00000452340.7:n.2960T>A
ENST00000554767.5:n.2770T>A
ENST00000555710.1:c.345T>A	ENSP00000451730.1:n.345T>A
ENST00000556171.1:c.576T>A
ENST00000556394.1:c.88-269T>A
ENST00000556446.1:n.285T>A
ENST00000602717.5:c.199T>A	ENSP00000487704.1:p.Tyr67Asn
NM_013382.5:c.1984T>A , LRG_844t1:c.1984T>A	NP_037514.2:p.Tyr662Asn
XM_011536675.1:c.2173T>A	XP_011534977.1:p.Tyr725Asn
XM_011536676.1:c.1840T>A	XP_011534978.1:p.Tyr614Asn
XM_011536677.1:c.1714T>A	XP_011534979.1:p.Tyr572Asn
XM_011536679.1:c.1267T>A	XP_011534981.1:p.Tyr423Asn
XR_943416.1:n.2237T>A
XM_011536675.2:c.2173T>A	XP_011534977.1:p.Tyr725Asn
XM_011536676.2:c.1840T>A	XP_011534978.1:p.Tyr614Asn
XM_011536677.3:c.1714T>A	XP_011534979.1:p.Tyr572Asn
XR_001750279.1:n.2270T>A
XR_001750282.1:n.2923T>A
XR_943416.3:n.2235T>A
NM_013382.6:c.1984T>A	NP_037514.2:p.Tyr662Asn
NM_013382.7:c.1984T>A MANE Select	NP_037514.2:p.Tyr662Asn