Canonical Allele Identifier: CA390513621

Gene: POMT2

Linked Data

• dbSNP Id: rs1463463670
• gnomAD v2: 14-77744830-A-G
• gnomAD v3: 14-77278487-A-G
• gnomAD v4: 14-77278487-A-G
• MyVariant Identifiers: chr14:g.77744830A>G (hg19) ; chr14:g.77278487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278487A>G , CM000676.2:g.77278487A>G	GRCh38
NC_000014.8:g.77744830A>G , CM000676.1:g.77744830A>G	GRCh37
NC_000014.7:g.76814583A>G	NCBI36
NG_008897.1:g.47396T>C , LRG_844:g.47396T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.979T>C
ENST00000556394.2:c.1595T>C	ENSP00000451967.2:p.Leu532Pro
ENST00000682247.1:c.2043T>C	ENSP00000507213.1:p.Pro681=
ENST00000682395.1:n.2518T>C
ENST00000682459.1:n.1757T>C
ENST00000682467.1:c.1913T>C	ENSP00000508062.1:p.Leu638Pro
ENST00000682795.1:c.2201T>C	ENSP00000507574.1:p.Leu734Pro
ENST00000682895.1:n.1770T>C
ENST00000682955.1:n.1628T>C
ENST00000683188.1:c.2315T>C
ENST00000683380.1:n.1718T>C
ENST00000683907.1:c.319T>C	ENSP00000507754.1:n.319T>C
ENST00000684259.1:n.3821T>C
ENST00000684538.1:n.1433T>C
ENST00000684549.1:n.1605T>C
ENST00000261534.9:c.2054T>C MANE Select	ENSP00000261534.4:p.Leu685Pro
ENST00000261534.8:c.2054T>C	ENSP00000261534.4:p.Leu685Pro
ENST00000452340.7:n.3030T>C
ENST00000554767.5:n.2840T>C
ENST00000555710.1:c.415T>C	ENSP00000451730.1:n.415T>C
ENST00000556394.1:c.109T>C
ENST00000556446.1:n.355T>C
ENST00000602717.5:c.269T>C	ENSP00000487704.1:p.Leu90Pro
NM_013382.5:c.2054T>C , LRG_844t1:c.2054T>C	NP_037514.2:p.Leu685Pro
XM_011536675.1:c.2243T>C	XP_011534977.1:p.Leu748Pro
XM_011536676.1:c.1910T>C	XP_011534978.1:p.Leu637Pro
XM_011536677.1:c.1784T>C	XP_011534979.1:p.Leu595Pro
XM_011536679.1:c.1337T>C	XP_011534981.1:p.Leu446Pro
XR_943416.1:n.2307T>C
XM_011536675.2:c.2243T>C	XP_011534977.1:p.Leu748Pro
XM_011536676.2:c.1910T>C	XP_011534978.1:p.Leu637Pro
XM_011536677.3:c.1784T>C	XP_011534979.1:p.Leu595Pro
XR_001750279.1:n.2340T>C
XR_001750282.1:n.2993T>C
XR_943416.3:n.2305T>C
NM_013382.6:c.2054T>C	NP_037514.2:p.Leu685Pro
NM_013382.7:c.2054T>C MANE Select	NP_037514.2:p.Leu685Pro