Canonical Allele Identifier: CA487509558

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278855-G-A
• MyVariant Identifiers: chr14:g.77745198G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278855G>A , CM000676.2:g.77278855G>A	GRCh38
NC_000014.8:g.77745198G>A , CM000676.1:g.77745198G>A	GRCh37
NC_000014.7:g.76814951G>A	NCBI36
NG_008897.1:g.47028C>T , LRG_844:g.47028C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.831C>T
ENST00000556394.2:c.1447C>T	ENSP00000451967.2:p.Leu483=
ENST00000682128.1:c.207C>T	ENSP00000506976.1:n.207C>T
ENST00000682247.1:c.1895C>T	ENSP00000507213.1:p.Pro632Leu
ENST00000682395.1:n.2370C>T
ENST00000682459.1:n.1609C>T
ENST00000682467.1:c.1892-347C>T	ENSP00000508062.1:n.1892-347C>T
ENST00000682615.1:n.260C>T
ENST00000682795.1:c.2053C>T	ENSP00000507574.1:p.Leu685=
ENST00000682895.1:n.1622C>T
ENST00000682955.1:n.1480C>T
ENST00000683095.1:c.312C>T	ENSP00000508040.1:n.312C>T
ENST00000683188.1:c.2167C>T
ENST00000683380.1:n.1570C>T
ENST00000683828.1:c.1615C>T
ENST00000683907.1:c.171C>T	ENSP00000507754.1:p.Ser57=
ENST00000684172.1:c.282C>T	ENSP00000508391.1:n.282C>T
ENST00000684259.1:n.3673C>T
ENST00000684538.1:n.1285C>T
ENST00000684549.1:n.1457C>T
ENST00000261534.9:c.1906C>T MANE Select	ENSP00000261534.4:p.Leu636=
ENST00000261534.8:c.1906C>T	ENSP00000261534.4:p.Leu636=
ENST00000452340.7:n.2882C>T
ENST00000554767.5:n.2692C>T
ENST00000555134.1:n.831C>T
ENST00000555710.1:c.267C>T	ENSP00000451730.1:n.267C>T
ENST00000556171.1:c.498C>T
ENST00000556394.1:c.88-347C>T
ENST00000556446.1:n.207C>T
ENST00000602717.5:c.121C>T	ENSP00000487704.1:p.Leu41=
NM_013382.5:c.1906C>T , LRG_844t1:c.1906C>T	NP_037514.2:p.Leu636=
XM_011536675.1:c.2095C>T	XP_011534977.1:p.Leu699=
XM_011536676.1:c.1762C>T	XP_011534978.1:p.Leu588=
XM_011536677.1:c.1636C>T	XP_011534979.1:p.Leu546=
XM_011536679.1:c.1189C>T	XP_011534981.1:p.Leu397=
XR_943416.1:n.2159C>T
XM_011536675.2:c.2095C>T	XP_011534977.1:p.Leu699=
XM_011536676.2:c.1762C>T	XP_011534978.1:p.Leu588=
XM_011536677.3:c.1636C>T	XP_011534979.1:p.Leu546=
XR_001750279.1:n.2192C>T
XR_001750282.1:n.2845C>T
XR_943416.3:n.2157C>T
NM_013382.6:c.1906C>T	NP_037514.2:p.Leu636=
NM_013382.7:c.1906C>T MANE Select	NP_037514.2:p.Leu636=