Canonical Allele Identifier: CA487509358

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278462-G-T
• MyVariant Identifiers: chr14:g.77744805G>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1004C>A
ENST00000556394.2:c.1620C>A	ENSP00000451967.2:p.Ala540=
ENST00000682247.1:c.2068C>A	ENSP00000507213.1:p.Leu690Ile
ENST00000682395.1:n.2543C>A
ENST00000682459.1:n.1782C>A
ENST00000682467.1:c.1938C>A	ENSP00000508062.1:p.Ala646=
ENST00000682795.1:c.2226C>A	ENSP00000507574.1:p.Ala742=
ENST00000682895.1:n.1795C>A
ENST00000682955.1:n.1653C>A
ENST00000683188.1:c.2340C>A
ENST00000683380.1:n.1743C>A
ENST00000683907.1:c.344C>A	ENSP00000507754.1:n.344C>A
ENST00000684259.1:n.3846C>A
ENST00000684538.1:n.1458C>A
ENST00000684549.1:n.1630C>A
ENST00000261534.9:c.2079C>A MANE Select	ENSP00000261534.4:p.Ala693=
ENST00000261534.8:c.2079C>A	ENSP00000261534.4:p.Ala693=
ENST00000452340.7:n.3055C>A
ENST00000554767.5:n.2865C>A
ENST00000555710.1:c.440C>A	ENSP00000451730.1:n.440C>A
ENST00000556394.1:c.134C>A
ENST00000556446.1:n.380C>A
ENST00000602717.5:c.294C>A	ENSP00000487704.1:p.Ala98=
NM_013382.5:c.2079C>A , LRG_844t1:c.2079C>A	NP_037514.2:p.Ala693=
XM_011536675.1:c.2268C>A	XP_011534977.1:p.Ala756=
XM_011536676.1:c.1935C>A	XP_011534978.1:p.Ala645=
XM_011536677.1:c.1809C>A	XP_011534979.1:p.Ala603=
XM_011536679.1:c.1362C>A	XP_011534981.1:p.Ala454=
XR_943416.1:n.2332C>A
XM_011536675.2:c.2268C>A	XP_011534977.1:p.Ala756=
XM_011536676.2:c.1935C>A	XP_011534978.1:p.Ala645=
XM_011536677.3:c.1809C>A	XP_011534979.1:p.Ala603=
XR_001750279.1:n.2365C>A
XR_001750282.1:n.3018C>A
XR_943416.3:n.2330C>A
NM_013382.6:c.2079C>A	NP_037514.2:p.Ala693=
NM_013382.7:c.2079C>A MANE Select	NP_037514.2:p.Ala693=