Canonical Allele Identifier: CA390513914

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.909T>G
ENST00000556394.2:c.1525T>G	ENSP00000451967.2:p.Tyr509Asp
ENST00000682128.1:c.285T>G	ENSP00000506976.1:n.285T>G
ENST00000682247.1:c.1973T>G	ENSP00000507213.1:p.Leu658Arg
ENST00000682395.1:n.2448T>G
ENST00000682459.1:n.1687T>G
ENST00000682467.1:c.1892-269T>G	ENSP00000508062.1:n.1892-269T>G
ENST00000682615.1:n.338T>G
ENST00000682795.1:c.2131T>G	ENSP00000507574.1:p.Tyr711Asp
ENST00000682895.1:n.1700T>G
ENST00000682955.1:n.1558T>G
ENST00000683095.1:c.390T>G	ENSP00000508040.1:n.390T>G
ENST00000683188.1:c.2245T>G
ENST00000683380.1:n.1648T>G
ENST00000683907.1:c.249T>G	ENSP00000507754.1:n.249T>G
ENST00000684172.1:c.360T>G	ENSP00000508391.1:n.360T>G
ENST00000684259.1:n.3751T>G
ENST00000684538.1:n.1363T>G
ENST00000684549.1:n.1535T>G
ENST00000261534.9:c.1984T>G MANE Select	ENSP00000261534.4:p.Tyr662Asp
ENST00000261534.8:c.1984T>G	ENSP00000261534.4:p.Tyr662Asp
ENST00000452340.7:n.2960T>G
ENST00000554767.5:n.2770T>G
ENST00000555710.1:c.345T>G	ENSP00000451730.1:n.345T>G
ENST00000556171.1:c.576T>G
ENST00000556394.1:c.88-269T>G
ENST00000556446.1:n.285T>G
ENST00000602717.5:c.199T>G	ENSP00000487704.1:p.Tyr67Asp
NM_013382.5:c.1984T>G , LRG_844t1:c.1984T>G	NP_037514.2:p.Tyr662Asp
XM_011536675.1:c.2173T>G	XP_011534977.1:p.Tyr725Asp
XM_011536676.1:c.1840T>G	XP_011534978.1:p.Tyr614Asp
XM_011536677.1:c.1714T>G	XP_011534979.1:p.Tyr572Asp
XM_011536679.1:c.1267T>G	XP_011534981.1:p.Tyr423Asp
XR_943416.1:n.2237T>G
XM_011536675.2:c.2173T>G	XP_011534977.1:p.Tyr725Asp
XM_011536676.2:c.1840T>G	XP_011534978.1:p.Tyr614Asp
XM_011536677.3:c.1714T>G	XP_011534979.1:p.Tyr572Asp
XR_001750279.1:n.2270T>G
XR_001750282.1:n.2923T>G
XR_943416.3:n.2235T>G
NM_013382.6:c.1984T>G	NP_037514.2:p.Tyr662Asp
NM_013382.7:c.1984T>G MANE Select	NP_037514.2:p.Tyr662Asp