Canonical Allele Identifier: CA487509274

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.932C>G
ENST00000556394.2:c.1548C>G	ENSP00000451967.2:p.Ala516=
ENST00000682128.1:c.308C>G	ENSP00000506976.1:n.308C>G
ENST00000682247.1:c.1996C>G	ENSP00000507213.1:p.His666Asp
ENST00000682395.1:n.2471C>G
ENST00000682459.1:n.1710C>G
ENST00000682467.1:c.1892-246C>G	ENSP00000508062.1:n.1892-246C>G
ENST00000682615.1:n.361C>G
ENST00000682795.1:c.2154C>G	ENSP00000507574.1:p.Ala718=
ENST00000682895.1:n.1723C>G
ENST00000682955.1:n.1581C>G
ENST00000683095.1:c.413C>G	ENSP00000508040.1:n.413C>G
ENST00000683188.1:c.2268C>G
ENST00000683380.1:n.1671C>G
ENST00000683907.1:c.272C>G	ENSP00000507754.1:n.272C>G
ENST00000684172.1:c.383C>G	ENSP00000508391.1:n.383C>G
ENST00000684259.1:n.3774C>G
ENST00000684538.1:n.1386C>G
ENST00000684549.1:n.1558C>G
ENST00000261534.9:c.2007C>G MANE Select	ENSP00000261534.4:p.Ala669=
ENST00000261534.8:c.2007C>G	ENSP00000261534.4:p.Ala669=
ENST00000452340.7:n.2983C>G
ENST00000554767.5:n.2793C>G
ENST00000555710.1:c.368C>G	ENSP00000451730.1:n.368C>G
ENST00000556394.1:c.88-246C>G
ENST00000556446.1:n.308C>G
ENST00000602717.5:c.222C>G	ENSP00000487704.1:p.Ala74=
NM_013382.5:c.2007C>G , LRG_844t1:c.2007C>G	NP_037514.2:p.Ala669=
XM_011536675.1:c.2196C>G	XP_011534977.1:p.Ala732=
XM_011536676.1:c.1863C>G	XP_011534978.1:p.Ala621=
XM_011536677.1:c.1737C>G	XP_011534979.1:p.Ala579=
XM_011536679.1:c.1290C>G	XP_011534981.1:p.Ala430=
XR_943416.1:n.2260C>G
XM_011536675.2:c.2196C>G	XP_011534977.1:p.Ala732=
XM_011536676.2:c.1863C>G	XP_011534978.1:p.Ala621=
XM_011536677.3:c.1737C>G	XP_011534979.1:p.Ala579=
XR_001750279.1:n.2293C>G
XR_001750282.1:n.2946C>G
XR_943416.3:n.2258C>G
NM_013382.6:c.2007C>G	NP_037514.2:p.Ala669=
NM_013382.7:c.2007C>G MANE Select	NP_037514.2:p.Ala669=