Canonical Allele Identifier: CA390514186

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745188C>A (hg19) ; chr14:g.77278845C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278845C>A , CM000676.2:g.77278845C>A	GRCh38
NC_000014.8:g.77745188C>A , CM000676.1:g.77745188C>A	GRCh37
NC_000014.7:g.76814941C>A	NCBI36
NG_008897.1:g.47038G>T , LRG_844:g.47038G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.841G>T
ENST00000556394.2:c.1457G>T	ENSP00000451967.2:p.Gly486Val
ENST00000682128.1:c.217G>T	ENSP00000506976.1:n.217G>T
ENST00000682247.1:c.1905G>T	ENSP00000507213.1:p.Arg635Ser
ENST00000682395.1:n.2380G>T
ENST00000682459.1:n.1619G>T
ENST00000682467.1:c.1892-337G>T	ENSP00000508062.1:n.1892-337G>T
ENST00000682615.1:n.270G>T
ENST00000682795.1:c.2063G>T	ENSP00000507574.1:p.Gly688Val
ENST00000682895.1:n.1632G>T
ENST00000682955.1:n.1490G>T
ENST00000683095.1:c.322G>T	ENSP00000508040.1:n.322G>T
ENST00000683188.1:c.2177G>T
ENST00000683380.1:n.1580G>T
ENST00000683828.1:c.1625G>T
ENST00000683907.1:c.181G>T	ENSP00000507754.1:p.Glu61Ter
ENST00000684172.1:c.292G>T	ENSP00000508391.1:n.292G>T
ENST00000684259.1:n.3683G>T
ENST00000684538.1:n.1295G>T
ENST00000684549.1:n.1467G>T
ENST00000261534.9:c.1916G>T MANE Select	ENSP00000261534.4:p.Gly639Val
ENST00000261534.8:c.1916G>T	ENSP00000261534.4:p.Gly639Val
ENST00000452340.7:n.2892G>T
ENST00000554767.5:n.2702G>T
ENST00000555134.1:n.841G>T
ENST00000555710.1:c.277G>T	ENSP00000451730.1:n.277G>T
ENST00000556171.1:c.508G>T
ENST00000556394.1:c.88-337G>T
ENST00000556446.1:n.217G>T
ENST00000602717.5:c.131G>T	ENSP00000487704.1:p.Gly44Val
NM_013382.5:c.1916G>T , LRG_844t1:c.1916G>T	NP_037514.2:p.Gly639Val
XM_011536675.1:c.2105G>T	XP_011534977.1:p.Gly702Val
XM_011536676.1:c.1772G>T	XP_011534978.1:p.Gly591Val
XM_011536677.1:c.1646G>T	XP_011534979.1:p.Gly549Val
XM_011536679.1:c.1199G>T	XP_011534981.1:p.Gly400Val
XR_943416.1:n.2169G>T
XM_011536675.2:c.2105G>T	XP_011534977.1:p.Gly702Val
XM_011536676.2:c.1772G>T	XP_011534978.1:p.Gly591Val
XM_011536677.3:c.1646G>T	XP_011534979.1:p.Gly549Val
XR_001750279.1:n.2202G>T
XR_001750282.1:n.2855G>T
XR_943416.3:n.2167G>T
NM_013382.6:c.1916G>T	NP_037514.2:p.Gly639Val
NM_013382.7:c.1916G>T MANE Select	NP_037514.2:p.Gly639Val