Canonical Allele Identifier: CA487509354

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2944140
• ClinVar RCV Id: RCV003805890
• dbSNP Id: rs1388825342
• gnomAD v2: 14-77744805-G-A
• gnomAD v4: 14-77278462-G-A
• MyVariant Identifiers: chr14:g.77744805G>A (hg19) ; chr14:g.77278462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278462G>A , CM000676.2:g.77278462G>A	GRCh38
NC_000014.8:g.77744805G>A , CM000676.1:g.77744805G>A	GRCh37
NC_000014.7:g.76814558G>A	NCBI36
NG_008897.1:g.47421C>T , LRG_844:g.47421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1004C>T
ENST00000556394.2:c.1620C>T	ENSP00000451967.2:p.Ala540=
ENST00000682247.1:c.2068C>T	ENSP00000507213.1:p.Leu690Phe
ENST00000682395.1:n.2543C>T
ENST00000682459.1:n.1782C>T
ENST00000682467.1:c.1938C>T	ENSP00000508062.1:p.Ala646=
ENST00000682795.1:c.2226C>T	ENSP00000507574.1:p.Ala742=
ENST00000682895.1:n.1795C>T
ENST00000682955.1:n.1653C>T
ENST00000683188.1:c.2340C>T
ENST00000683380.1:n.1743C>T
ENST00000683907.1:c.344C>T	ENSP00000507754.1:n.344C>T
ENST00000684259.1:n.3846C>T
ENST00000684538.1:n.1458C>T
ENST00000684549.1:n.1630C>T
ENST00000261534.9:c.2079C>T MANE Select	ENSP00000261534.4:p.Ala693=
ENST00000261534.8:c.2079C>T	ENSP00000261534.4:p.Ala693=
ENST00000452340.7:n.3055C>T
ENST00000554767.5:n.2865C>T
ENST00000555710.1:c.440C>T	ENSP00000451730.1:n.440C>T
ENST00000556394.1:c.134C>T
ENST00000556446.1:n.380C>T
ENST00000602717.5:c.294C>T	ENSP00000487704.1:p.Ala98=
NM_013382.5:c.2079C>T , LRG_844t1:c.2079C>T	NP_037514.2:p.Ala693=
XM_011536675.1:c.2268C>T	XP_011534977.1:p.Ala756=
XM_011536676.1:c.1935C>T	XP_011534978.1:p.Ala645=
XM_011536677.1:c.1809C>T	XP_011534979.1:p.Ala603=
XM_011536679.1:c.1362C>T	XP_011534981.1:p.Ala454=
XR_943416.1:n.2332C>T
XM_011536675.2:c.2268C>T	XP_011534977.1:p.Ala756=
XM_011536676.2:c.1935C>T	XP_011534978.1:p.Ala645=
XM_011536677.3:c.1809C>T	XP_011534979.1:p.Ala603=
XR_001750279.1:n.2365C>T
XR_001750282.1:n.3018C>T
XR_943416.3:n.2330C>T
NM_013382.6:c.2079C>T	NP_037514.2:p.Ala693=
NM_013382.7:c.2079C>T MANE Select	NP_037514.2:p.Ala693=