Canonical Allele Identifier: CA487509400

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744823G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278480G>C , CM000676.2:g.77278480G>C	GRCh38
NC_000014.8:g.77744823G>C , CM000676.1:g.77744823G>C	GRCh37
NC_000014.7:g.76814576G>C	NCBI36
NG_008897.1:g.47403C>G , LRG_844:g.47403C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.986C>G
ENST00000556394.2:c.1602C>G	ENSP00000451967.2:p.Leu534=
ENST00000682247.1:c.2050C>G	ENSP00000507213.1:p.Leu684Val
ENST00000682395.1:n.2525C>G
ENST00000682459.1:n.1764C>G
ENST00000682467.1:c.1920C>G	ENSP00000508062.1:p.Leu640=
ENST00000682795.1:c.2208C>G	ENSP00000507574.1:p.Leu736=
ENST00000682895.1:n.1777C>G
ENST00000682955.1:n.1635C>G
ENST00000683188.1:c.2322C>G
ENST00000683380.1:n.1725C>G
ENST00000683907.1:c.326C>G	ENSP00000507754.1:n.326C>G
ENST00000684259.1:n.3828C>G
ENST00000684538.1:n.1440C>G
ENST00000684549.1:n.1612C>G
ENST00000261534.9:c.2061C>G MANE Select	ENSP00000261534.4:p.Leu687=
ENST00000261534.8:c.2061C>G	ENSP00000261534.4:p.Leu687=
ENST00000452340.7:n.3037C>G
ENST00000554767.5:n.2847C>G
ENST00000555710.1:c.422C>G	ENSP00000451730.1:n.422C>G
ENST00000556394.1:c.116C>G
ENST00000556446.1:n.362C>G
ENST00000602717.5:c.276C>G	ENSP00000487704.1:p.Leu92=
NM_013382.5:c.2061C>G , LRG_844t1:c.2061C>G	NP_037514.2:p.Leu687=
XM_011536675.1:c.2250C>G	XP_011534977.1:p.Leu750=
XM_011536676.1:c.1917C>G	XP_011534978.1:p.Leu639=
XM_011536677.1:c.1791C>G	XP_011534979.1:p.Leu597=
XM_011536679.1:c.1344C>G	XP_011534981.1:p.Leu448=
XR_943416.1:n.2314C>G
XM_011536675.2:c.2250C>G	XP_011534977.1:p.Leu750=
XM_011536676.2:c.1917C>G	XP_011534978.1:p.Leu639=
XM_011536677.3:c.1791C>G	XP_011534979.1:p.Leu597=
XR_001750279.1:n.2347C>G
XR_001750282.1:n.3000C>G
XR_943416.3:n.2312C>G
NM_013382.6:c.2061C>G	NP_037514.2:p.Leu687=
NM_013382.7:c.2061C>G MANE Select	NP_037514.2:p.Leu687=