Canonical Allele Identifier: CA263816972

Gene: POMT2

Linked Data

• dbSNP Id: rs1054015193
• gnomAD v2: 14-77744806-G-T
• gnomAD v3: 14-77278463-G-T
• gnomAD v4: 14-77278463-G-T
• MyVariant Identifiers: chr14:g.77744806G>T (hg19) ; chr14:g.77278463G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278463G>T , CM000676.2:g.77278463G>T	GRCh38
NC_000014.8:g.77744806G>T , CM000676.1:g.77744806G>T	GRCh37
NC_000014.7:g.76814559G>T	NCBI36
NG_008897.1:g.47420C>A , LRG_844:g.47420C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1003C>A
ENST00000556394.2:c.1619C>A	ENSP00000451967.2:p.Ala540Asp
ENST00000682247.1:c.2067C>A	ENSP00000507213.1:p.Gly689=
ENST00000682395.1:n.2542C>A
ENST00000682459.1:n.1781C>A
ENST00000682467.1:c.1937C>A	ENSP00000508062.1:p.Ala646Asp
ENST00000682795.1:c.2225C>A	ENSP00000507574.1:p.Ala742Asp
ENST00000682895.1:n.1794C>A
ENST00000682955.1:n.1652C>A
ENST00000683188.1:c.2339C>A
ENST00000683380.1:n.1742C>A
ENST00000683907.1:c.343C>A	ENSP00000507754.1:n.343C>A
ENST00000684259.1:n.3845C>A
ENST00000684538.1:n.1457C>A
ENST00000684549.1:n.1629C>A
ENST00000261534.9:c.2078C>A MANE Select	ENSP00000261534.4:p.Ala693Asp
ENST00000261534.8:c.2078C>A	ENSP00000261534.4:p.Ala693Asp
ENST00000452340.7:n.3054C>A
ENST00000554767.5:n.2864C>A
ENST00000555710.1:c.439C>A	ENSP00000451730.1:n.439C>A
ENST00000556394.1:c.133C>A
ENST00000556446.1:n.379C>A
ENST00000602717.5:c.293C>A	ENSP00000487704.1:p.Ala98Asp
NM_013382.5:c.2078C>A , LRG_844t1:c.2078C>A	NP_037514.2:p.Ala693Asp
XM_011536675.1:c.2267C>A	XP_011534977.1:p.Ala756Asp
XM_011536676.1:c.1934C>A	XP_011534978.1:p.Ala645Asp
XM_011536677.1:c.1808C>A	XP_011534979.1:p.Ala603Asp
XM_011536679.1:c.1361C>A	XP_011534981.1:p.Ala454Asp
XR_943416.1:n.2331C>A
XM_011536675.2:c.2267C>A	XP_011534977.1:p.Ala756Asp
XM_011536676.2:c.1934C>A	XP_011534978.1:p.Ala645Asp
XM_011536677.3:c.1808C>A	XP_011534979.1:p.Ala603Asp
XR_001750279.1:n.2364C>A
XR_001750282.1:n.3017C>A
XR_943416.3:n.2329C>A
NM_013382.6:c.2078C>A	NP_037514.2:p.Ala693Asp
NM_013382.7:c.2078C>A MANE Select	NP_037514.2:p.Ala693Asp