Canonical Allele Identifier: CA390514233

Gene: POMT2

Linked Data

• dbSNP Id: rs1329064455
• gnomAD v2: 14-77745200-A-T
• gnomAD v4: 14-77278857-A-T
• MyVariant Identifiers: chr14:g.77745200A>T (hg19) ; chr14:g.77278857A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278857A>T , CM000676.2:g.77278857A>T	GRCh38
NC_000014.8:g.77745200A>T , CM000676.1:g.77745200A>T	GRCh37
NC_000014.7:g.76814953A>T	NCBI36
NG_008897.1:g.47026T>A , LRG_844:g.47026T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.829T>A
ENST00000556394.2:c.1445T>A	ENSP00000451967.2:p.Val482Asp
ENST00000682128.1:c.205T>A	ENSP00000506976.1:n.205T>A
ENST00000682247.1:c.1893T>A	ENSP00000507213.1:p.Gly631=
ENST00000682395.1:n.2368T>A
ENST00000682459.1:n.1607T>A
ENST00000682467.1:c.1892-349T>A	ENSP00000508062.1:n.1892-349T>A
ENST00000682615.1:n.258T>A
ENST00000682795.1:c.2051T>A	ENSP00000507574.1:p.Val684Asp
ENST00000682895.1:n.1620T>A
ENST00000682955.1:n.1478T>A
ENST00000683095.1:c.310T>A	ENSP00000508040.1:n.310T>A
ENST00000683188.1:c.2165T>A
ENST00000683380.1:n.1568T>A
ENST00000683828.1:c.1613T>A
ENST00000683907.1:c.169T>A	ENSP00000507754.1:p.Ser57Thr
ENST00000684172.1:c.280T>A	ENSP00000508391.1:n.280T>A
ENST00000684259.1:n.3671T>A
ENST00000684538.1:n.1283T>A
ENST00000684549.1:n.1455T>A
ENST00000261534.9:c.1904T>A MANE Select	ENSP00000261534.4:p.Val635Asp
ENST00000261534.8:c.1904T>A	ENSP00000261534.4:p.Val635Asp
ENST00000452340.7:n.2880T>A
ENST00000554767.5:n.2690T>A
ENST00000555134.1:n.829T>A
ENST00000555710.1:c.265T>A	ENSP00000451730.1:n.265T>A
ENST00000556171.1:c.496T>A
ENST00000556394.1:c.88-349T>A
ENST00000556446.1:n.205T>A
ENST00000602717.5:c.119T>A	ENSP00000487704.1:p.Val40Asp
NM_013382.5:c.1904T>A , LRG_844t1:c.1904T>A	NP_037514.2:p.Val635Asp
XM_011536675.1:c.2093T>A	XP_011534977.1:p.Val698Asp
XM_011536676.1:c.1760T>A	XP_011534978.1:p.Val587Asp
XM_011536677.1:c.1634T>A	XP_011534979.1:p.Val545Asp
XM_011536679.1:c.1187T>A	XP_011534981.1:p.Val396Asp
XR_943416.1:n.2157T>A
XM_011536675.2:c.2093T>A	XP_011534977.1:p.Val698Asp
XM_011536676.2:c.1760T>A	XP_011534978.1:p.Val587Asp
XM_011536677.3:c.1634T>A	XP_011534979.1:p.Val545Asp
XR_001750279.1:n.2190T>A
XR_001750282.1:n.2843T>A
XR_943416.3:n.2155T>A
NM_013382.6:c.1904T>A	NP_037514.2:p.Val635Asp
NM_013382.7:c.1904T>A MANE Select	NP_037514.2:p.Val635Asp