Canonical Allele Identifier: CA390514181

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745186C>A (hg19) ; chr14:g.77278843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278843C>A , CM000676.2:g.77278843C>A	GRCh38
NC_000014.8:g.77745186C>A , CM000676.1:g.77745186C>A	GRCh37
NC_000014.7:g.76814939C>A	NCBI36
NG_008897.1:g.47040G>T , LRG_844:g.47040G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.843G>T
ENST00000556394.2:c.1459G>T	ENSP00000451967.2:p.Gly487Cys
ENST00000682128.1:c.219G>T	ENSP00000506976.1:n.219G>T
ENST00000682247.1:c.1907G>T	ENSP00000507213.1:p.Arg636Met
ENST00000682395.1:n.2382G>T
ENST00000682459.1:n.1621G>T
ENST00000682467.1:c.1892-335G>T	ENSP00000508062.1:n.1892-335G>T
ENST00000682615.1:n.272G>T
ENST00000682795.1:c.2065G>T	ENSP00000507574.1:p.Gly689Cys
ENST00000682895.1:n.1634G>T
ENST00000682955.1:n.1492G>T
ENST00000683095.1:c.324G>T	ENSP00000508040.1:n.324G>T
ENST00000683188.1:c.2179G>T
ENST00000683380.1:n.1582G>T
ENST00000683828.1:c.1627G>T
ENST00000683907.1:c.183G>T	ENSP00000507754.1:p.Glu61Asp
ENST00000684172.1:c.294G>T	ENSP00000508391.1:n.294G>T
ENST00000684259.1:n.3685G>T
ENST00000684538.1:n.1297G>T
ENST00000684549.1:n.1469G>T
ENST00000261534.9:c.1918G>T MANE Select	ENSP00000261534.4:p.Gly640Cys
ENST00000261534.8:c.1918G>T	ENSP00000261534.4:p.Gly640Cys
ENST00000452340.7:n.2894G>T
ENST00000554767.5:n.2704G>T
ENST00000555134.1:n.843G>T
ENST00000555710.1:c.279G>T	ENSP00000451730.1:n.279G>T
ENST00000556171.1:c.510G>T
ENST00000556394.1:c.88-335G>T
ENST00000556446.1:n.219G>T
ENST00000602717.5:c.133G>T	ENSP00000487704.1:p.Gly45Cys
NM_013382.5:c.1918G>T , LRG_844t1:c.1918G>T	NP_037514.2:p.Gly640Cys
XM_011536675.1:c.2107G>T	XP_011534977.1:p.Gly703Cys
XM_011536676.1:c.1774G>T	XP_011534978.1:p.Gly592Cys
XM_011536677.1:c.1648G>T	XP_011534979.1:p.Gly550Cys
XM_011536679.1:c.1201G>T	XP_011534981.1:p.Gly401Cys
XR_943416.1:n.2171G>T
XM_011536675.2:c.2107G>T	XP_011534977.1:p.Gly703Cys
XM_011536676.2:c.1774G>T	XP_011534978.1:p.Gly592Cys
XM_011536677.3:c.1648G>T	XP_011534979.1:p.Gly550Cys
XR_001750279.1:n.2204G>T
XR_001750282.1:n.2857G>T
XR_943416.3:n.2169G>T
NM_013382.6:c.1918G>T	NP_037514.2:p.Gly640Cys
NM_013382.7:c.1918G>T MANE Select	NP_037514.2:p.Gly640Cys