Canonical Allele Identifier: CA487509586

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745205G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278862G>T , CM000676.2:g.77278862G>T	GRCh38
NC_000014.8:g.77745205G>T , CM000676.1:g.77745205G>T	GRCh37
NC_000014.7:g.76814958G>T	NCBI36
NG_008897.1:g.47021C>A , LRG_844:g.47021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.824C>A
ENST00000556394.2:c.1440C>A	ENSP00000451967.2:p.Ser480=
ENST00000682128.1:c.200C>A	ENSP00000506976.1:n.200C>A
ENST00000682247.1:c.1892-4C>A	ENSP00000507213.1:n.1892-4C>A
ENST00000682395.1:n.2363C>A
ENST00000682459.1:n.1602C>A
ENST00000682467.1:c.1892-354C>A	ENSP00000508062.1:n.1892-354C>A
ENST00000682615.1:n.253C>A
ENST00000682795.1:c.2046C>A	ENSP00000507574.1:p.Ser682=
ENST00000682895.1:n.1615C>A
ENST00000682955.1:n.1473C>A
ENST00000683095.1:c.305C>A	ENSP00000508040.1:n.305C>A
ENST00000683188.1:c.2160C>A
ENST00000683380.1:n.1563C>A
ENST00000683828.1:c.1608C>A
ENST00000683907.1:c.164C>A	ENSP00000507754.1:p.Pro55His
ENST00000684172.1:c.275C>A	ENSP00000508391.1:n.275C>A
ENST00000684259.1:n.3666C>A
ENST00000684538.1:n.1278C>A
ENST00000684549.1:n.1450C>A
ENST00000261534.9:c.1899C>A MANE Select	ENSP00000261534.4:p.Ser633=
ENST00000261534.8:c.1899C>A	ENSP00000261534.4:p.Ser633=
ENST00000452340.7:n.2875C>A
ENST00000554767.5:n.2685C>A
ENST00000555134.1:n.824C>A
ENST00000555710.1:c.260C>A	ENSP00000451730.1:n.260C>A
ENST00000556171.1:c.491C>A
ENST00000556394.1:c.88-354C>A
ENST00000556446.1:n.200C>A
ENST00000602717.5:c.114C>A	ENSP00000487704.1:p.Ser38=
NM_013382.5:c.1899C>A , LRG_844t1:c.1899C>A	NP_037514.2:p.Ser633=
XM_011536675.1:c.2088C>A	XP_011534977.1:p.Ser696=
XM_011536676.1:c.1755C>A	XP_011534978.1:p.Ser585=
XM_011536677.1:c.1629C>A	XP_011534979.1:p.Ser543=
XM_011536679.1:c.1182C>A	XP_011534981.1:p.Ser394=
XR_943416.1:n.2152C>A
XM_011536675.2:c.2088C>A	XP_011534977.1:p.Ser696=
XM_011536676.2:c.1755C>A	XP_011534978.1:p.Ser585=
XM_011536677.3:c.1629C>A	XP_011534979.1:p.Ser543=
XR_001750279.1:n.2185C>A
XR_001750282.1:n.2838C>A
XR_943416.3:n.2150C>A
NM_013382.6:c.1899C>A	NP_037514.2:p.Ser633=
NM_013382.7:c.1899C>A MANE Select	NP_037514.2:p.Ser633=