Canonical Allele Identifier: CA487509273

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745097G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278754G>T , CM000676.2:g.77278754G>T	GRCh38
NC_000014.8:g.77745097G>T , CM000676.1:g.77745097G>T	GRCh37
NC_000014.7:g.76814850G>T	NCBI36
NG_008897.1:g.47129C>A , LRG_844:g.47129C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.932C>A
ENST00000556394.2:c.1548C>A	ENSP00000451967.2:p.Ala516=
ENST00000682128.1:c.308C>A	ENSP00000506976.1:n.308C>A
ENST00000682247.1:c.1996C>A	ENSP00000507213.1:p.His666Asn
ENST00000682395.1:n.2471C>A
ENST00000682459.1:n.1710C>A
ENST00000682467.1:c.1892-246C>A	ENSP00000508062.1:n.1892-246C>A
ENST00000682615.1:n.361C>A
ENST00000682795.1:c.2154C>A	ENSP00000507574.1:p.Ala718=
ENST00000682895.1:n.1723C>A
ENST00000682955.1:n.1581C>A
ENST00000683095.1:c.413C>A	ENSP00000508040.1:n.413C>A
ENST00000683188.1:c.2268C>A
ENST00000683380.1:n.1671C>A
ENST00000683907.1:c.272C>A	ENSP00000507754.1:n.272C>A
ENST00000684172.1:c.383C>A	ENSP00000508391.1:n.383C>A
ENST00000684259.1:n.3774C>A
ENST00000684538.1:n.1386C>A
ENST00000684549.1:n.1558C>A
ENST00000261534.9:c.2007C>A MANE Select	ENSP00000261534.4:p.Ala669=
ENST00000261534.8:c.2007C>A	ENSP00000261534.4:p.Ala669=
ENST00000452340.7:n.2983C>A
ENST00000554767.5:n.2793C>A
ENST00000555710.1:c.368C>A	ENSP00000451730.1:n.368C>A
ENST00000556394.1:c.88-246C>A
ENST00000556446.1:n.308C>A
ENST00000602717.5:c.222C>A	ENSP00000487704.1:p.Ala74=
NM_013382.5:c.2007C>A , LRG_844t1:c.2007C>A	NP_037514.2:p.Ala669=
XM_011536675.1:c.2196C>A	XP_011534977.1:p.Ala732=
XM_011536676.1:c.1863C>A	XP_011534978.1:p.Ala621=
XM_011536677.1:c.1737C>A	XP_011534979.1:p.Ala579=
XM_011536679.1:c.1290C>A	XP_011534981.1:p.Ala430=
XR_943416.1:n.2260C>A
XM_011536675.2:c.2196C>A	XP_011534977.1:p.Ala732=
XM_011536676.2:c.1863C>A	XP_011534978.1:p.Ala621=
XM_011536677.3:c.1737C>A	XP_011534979.1:p.Ala579=
XR_001750279.1:n.2293C>A
XR_001750282.1:n.2946C>A
XR_943416.3:n.2258C>A
NM_013382.6:c.2007C>A	NP_037514.2:p.Ala669=
NM_013382.7:c.2007C>A MANE Select	NP_037514.2:p.Ala669=