Canonical Allele Identifier: CA390513775

Gene: POMT2

Linked Data

• dbSNP Id: rs1890082324
• gnomAD v3: 14-77278749-A-G
• gnomAD v4: 14-77278749-A-G
• MyVariant Identifiers: chr14:g.77745092A>G (hg19) ; chr14:g.77278749A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278749A>G , CM000676.2:g.77278749A>G	GRCh38
NC_000014.8:g.77745092A>G , CM000676.1:g.77745092A>G	GRCh37
NC_000014.7:g.76814845A>G	NCBI36
NG_008897.1:g.47134T>C , LRG_844:g.47134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.937T>C
ENST00000556394.2:c.1553T>C	ENSP00000451967.2:p.Leu518Pro
ENST00000682128.1:c.313T>C	ENSP00000506976.1:n.313T>C
ENST00000682247.1:c.2001T>C	ENSP00000507213.1:p.Ala667=
ENST00000682395.1:n.2476T>C
ENST00000682459.1:n.1715T>C
ENST00000682467.1:c.1892-241T>C	ENSP00000508062.1:n.1892-241T>C
ENST00000682615.1:n.366T>C
ENST00000682795.1:c.2159T>C	ENSP00000507574.1:p.Leu720Pro
ENST00000682895.1:n.1728T>C
ENST00000682955.1:n.1586T>C
ENST00000683095.1:c.418T>C	ENSP00000508040.1:n.418T>C
ENST00000683188.1:c.2273T>C
ENST00000683380.1:n.1676T>C
ENST00000683907.1:c.277T>C	ENSP00000507754.1:n.277T>C
ENST00000684172.1:c.388T>C	ENSP00000508391.1:n.388T>C
ENST00000684259.1:n.3779T>C
ENST00000684538.1:n.1391T>C
ENST00000684549.1:n.1563T>C
ENST00000261534.9:c.2012T>C MANE Select	ENSP00000261534.4:p.Leu671Pro
ENST00000261534.8:c.2012T>C	ENSP00000261534.4:p.Leu671Pro
ENST00000452340.7:n.2988T>C
ENST00000554767.5:n.2798T>C
ENST00000555710.1:c.373T>C	ENSP00000451730.1:n.373T>C
ENST00000556394.1:c.88-241T>C
ENST00000556446.1:n.313T>C
ENST00000602717.5:c.227T>C	ENSP00000487704.1:p.Leu76Pro
NM_013382.5:c.2012T>C , LRG_844t1:c.2012T>C	NP_037514.2:p.Leu671Pro
XM_011536675.1:c.2201T>C	XP_011534977.1:p.Leu734Pro
XM_011536676.1:c.1868T>C	XP_011534978.1:p.Leu623Pro
XM_011536677.1:c.1742T>C	XP_011534979.1:p.Leu581Pro
XM_011536679.1:c.1295T>C	XP_011534981.1:p.Leu432Pro
XR_943416.1:n.2265T>C
XM_011536675.2:c.2201T>C	XP_011534977.1:p.Leu734Pro
XM_011536676.2:c.1868T>C	XP_011534978.1:p.Leu623Pro
XM_011536677.3:c.1742T>C	XP_011534979.1:p.Leu581Pro
XR_001750279.1:n.2298T>C
XR_001750282.1:n.2951T>C
XR_943416.3:n.2263T>C
NM_013382.6:c.2012T>C	NP_037514.2:p.Leu671Pro
NM_013382.7:c.2012T>C MANE Select	NP_037514.2:p.Leu671Pro