Canonical Allele Identifier: CA487509550

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745196C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278853C>A , CM000676.2:g.77278853C>A	GRCh38
NC_000014.8:g.77745196C>A , CM000676.1:g.77745196C>A	GRCh37
NC_000014.7:g.76814949C>A	NCBI36
NG_008897.1:g.47030G>T , LRG_844:g.47030G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.833G>T
ENST00000556394.2:c.1449G>T	ENSP00000451967.2:p.Leu483=
ENST00000682128.1:c.209G>T	ENSP00000506976.1:n.209G>T
ENST00000682247.1:c.1897G>T	ENSP00000507213.1:p.Ala633Ser
ENST00000682395.1:n.2372G>T
ENST00000682459.1:n.1611G>T
ENST00000682467.1:c.1892-345G>T	ENSP00000508062.1:n.1892-345G>T
ENST00000682615.1:n.262G>T
ENST00000682795.1:c.2055G>T	ENSP00000507574.1:p.Leu685=
ENST00000682895.1:n.1624G>T
ENST00000682955.1:n.1482G>T
ENST00000683095.1:c.314G>T	ENSP00000508040.1:n.314G>T
ENST00000683188.1:c.2169G>T
ENST00000683380.1:n.1572G>T
ENST00000683828.1:c.1617G>T
ENST00000683907.1:c.173G>T	ENSP00000507754.1:p.Cys58Phe
ENST00000684172.1:c.284G>T	ENSP00000508391.1:n.284G>T
ENST00000684259.1:n.3675G>T
ENST00000684538.1:n.1287G>T
ENST00000684549.1:n.1459G>T
ENST00000261534.9:c.1908G>T MANE Select	ENSP00000261534.4:p.Leu636=
ENST00000261534.8:c.1908G>T	ENSP00000261534.4:p.Leu636=
ENST00000452340.7:n.2884G>T
ENST00000554767.5:n.2694G>T
ENST00000555134.1:n.833G>T
ENST00000555710.1:c.269G>T	ENSP00000451730.1:n.269G>T
ENST00000556171.1:c.500G>T
ENST00000556394.1:c.88-345G>T
ENST00000556446.1:n.209G>T
ENST00000602717.5:c.123G>T	ENSP00000487704.1:p.Leu41=
NM_013382.5:c.1908G>T , LRG_844t1:c.1908G>T	NP_037514.2:p.Leu636=
XM_011536675.1:c.2097G>T	XP_011534977.1:p.Leu699=
XM_011536676.1:c.1764G>T	XP_011534978.1:p.Leu588=
XM_011536677.1:c.1638G>T	XP_011534979.1:p.Leu546=
XM_011536679.1:c.1191G>T	XP_011534981.1:p.Leu397=
XR_943416.1:n.2161G>T
XM_011536675.2:c.2097G>T	XP_011534977.1:p.Leu699=
XM_011536676.2:c.1764G>T	XP_011534978.1:p.Leu588=
XM_011536677.3:c.1638G>T	XP_011534979.1:p.Leu546=
XR_001750279.1:n.2194G>T
XR_001750282.1:n.2847G>T
XR_943416.3:n.2159G>T
NM_013382.6:c.1908G>T	NP_037514.2:p.Leu636=
NM_013382.7:c.1908G>T MANE Select	NP_037514.2:p.Leu636=