Canonical Allele Identifier: CA390513529

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1003C>T
ENST00000556394.2:c.1619C>T	ENSP00000451967.2:p.Ala540Val
ENST00000682247.1:c.2067C>T	ENSP00000507213.1:p.Gly689=
ENST00000682395.1:n.2542C>T
ENST00000682459.1:n.1781C>T
ENST00000682467.1:c.1937C>T	ENSP00000508062.1:p.Ala646Val
ENST00000682795.1:c.2225C>T	ENSP00000507574.1:p.Ala742Val
ENST00000682895.1:n.1794C>T
ENST00000682955.1:n.1652C>T
ENST00000683188.1:c.2339C>T
ENST00000683380.1:n.1742C>T
ENST00000683907.1:c.343C>T	ENSP00000507754.1:n.343C>T
ENST00000684259.1:n.3845C>T
ENST00000684538.1:n.1457C>T
ENST00000684549.1:n.1629C>T
ENST00000261534.9:c.2078C>T MANE Select	ENSP00000261534.4:p.Ala693Val
ENST00000261534.8:c.2078C>T	ENSP00000261534.4:p.Ala693Val
ENST00000452340.7:n.3054C>T
ENST00000554767.5:n.2864C>T
ENST00000555710.1:c.439C>T	ENSP00000451730.1:n.439C>T
ENST00000556394.1:c.133C>T
ENST00000556446.1:n.379C>T
ENST00000602717.5:c.293C>T	ENSP00000487704.1:p.Ala98Val
NM_013382.5:c.2078C>T , LRG_844t1:c.2078C>T	NP_037514.2:p.Ala693Val
XM_011536675.1:c.2267C>T	XP_011534977.1:p.Ala756Val
XM_011536676.1:c.1934C>T	XP_011534978.1:p.Ala645Val
XM_011536677.1:c.1808C>T	XP_011534979.1:p.Ala603Val
XM_011536679.1:c.1361C>T	XP_011534981.1:p.Ala454Val
XR_943416.1:n.2331C>T
XM_011536675.2:c.2267C>T	XP_011534977.1:p.Ala756Val
XM_011536676.2:c.1934C>T	XP_011534978.1:p.Ala645Val
XM_011536677.3:c.1808C>T	XP_011534979.1:p.Ala603Val
XR_001750279.1:n.2364C>T
XR_001750282.1:n.3017C>T
XR_943416.3:n.2329C>T
NM_013382.6:c.2078C>T	NP_037514.2:p.Ala693Val
NM_013382.7:c.2078C>T MANE Select	NP_037514.2:p.Ala693Val