Canonical Allele Identifier: CA390514108

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745168C>A (hg19) ; chr14:g.77278825C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278825C>A , CM000676.2:g.77278825C>A	GRCh38
NC_000014.8:g.77745168C>A , CM000676.1:g.77745168C>A	GRCh37
NC_000014.7:g.76814921C>A	NCBI36
NG_008897.1:g.47058G>T , LRG_844:g.47058G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.861G>T
ENST00000556394.2:c.1477G>T	ENSP00000451967.2:p.Gly493Cys
ENST00000682128.1:c.237G>T	ENSP00000506976.1:n.237G>T
ENST00000682247.1:c.1925G>T	ENSP00000507213.1:p.Arg642Leu
ENST00000682395.1:n.2400G>T
ENST00000682459.1:n.1639G>T
ENST00000682467.1:c.1892-317G>T	ENSP00000508062.1:n.1892-317G>T
ENST00000682615.1:n.290G>T
ENST00000682795.1:c.2083G>T	ENSP00000507574.1:p.Gly695Cys
ENST00000682895.1:n.1652G>T
ENST00000682955.1:n.1510G>T
ENST00000683095.1:c.342G>T	ENSP00000508040.1:n.342G>T
ENST00000683188.1:c.2197G>T
ENST00000683380.1:n.1600G>T
ENST00000683828.1:c.1645G>T
ENST00000683907.1:c.201G>T	ENSP00000507754.1:p.Ser67=
ENST00000684172.1:c.312G>T	ENSP00000508391.1:n.312G>T
ENST00000684259.1:n.3703G>T
ENST00000684538.1:n.1315G>T
ENST00000684549.1:n.1487G>T
ENST00000261534.9:c.1936G>T MANE Select	ENSP00000261534.4:p.Gly646Cys
ENST00000261534.8:c.1936G>T	ENSP00000261534.4:p.Gly646Cys
ENST00000452340.7:n.2912G>T
ENST00000554767.5:n.2722G>T
ENST00000555134.1:n.861G>T
ENST00000555710.1:c.297G>T	ENSP00000451730.1:n.297G>T
ENST00000556171.1:c.528G>T
ENST00000556394.1:c.88-317G>T
ENST00000556446.1:n.237G>T
ENST00000602717.5:c.151G>T	ENSP00000487704.1:p.Gly51Cys
NM_013382.5:c.1936G>T , LRG_844t1:c.1936G>T	NP_037514.2:p.Gly646Cys
XM_011536675.1:c.2125G>T	XP_011534977.1:p.Gly709Cys
XM_011536676.1:c.1792G>T	XP_011534978.1:p.Gly598Cys
XM_011536677.1:c.1666G>T	XP_011534979.1:p.Gly556Cys
XM_011536679.1:c.1219G>T	XP_011534981.1:p.Gly407Cys
XR_943416.1:n.2189G>T
XM_011536675.2:c.2125G>T	XP_011534977.1:p.Gly709Cys
XM_011536676.2:c.1792G>T	XP_011534978.1:p.Gly598Cys
XM_011536677.3:c.1666G>T	XP_011534979.1:p.Gly556Cys
XR_001750279.1:n.2222G>T
XR_001750282.1:n.2875G>T
XR_943416.3:n.2187G>T
NM_013382.6:c.1936G>T	NP_037514.2:p.Gly646Cys
NM_013382.7:c.1936G>T MANE Select	NP_037514.2:p.Gly646Cys