Canonical Allele Identifier: CA16606588

Gene: POMT2

Linked Data

• ClinVar Variation Id: 389362
• ClinVar RCV Id: RCV000443431 ; RCV001427873
• dbSNP Id: rs1057523411
• gnomAD v4: 14-77278778-G-A
• MyVariant Identifiers: chr14:g.77745121G>A (hg19) ; chr14:g.77278778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278778G>A , CM000676.2:g.77278778G>A	GRCh38
NC_000014.8:g.77745121G>A , CM000676.1:g.77745121G>A	GRCh37
NC_000014.7:g.76814874G>A	NCBI36
NG_008897.1:g.47105C>T , LRG_844:g.47105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.908C>T
ENST00000556394.2:c.1524C>T	ENSP00000451967.2:p.Leu508=
ENST00000682128.1:c.284C>T	ENSP00000506976.1:n.284C>T
ENST00000682247.1:c.1972C>T	ENSP00000507213.1:p.Leu658=
ENST00000682395.1:n.2447C>T
ENST00000682459.1:n.1686C>T
ENST00000682467.1:c.1892-270C>T	ENSP00000508062.1:n.1892-270C>T
ENST00000682615.1:n.337C>T
ENST00000682795.1:c.2130C>T	ENSP00000507574.1:p.Leu710=
ENST00000682895.1:n.1699C>T
ENST00000682955.1:n.1557C>T
ENST00000683095.1:c.389C>T	ENSP00000508040.1:n.389C>T
ENST00000683188.1:c.2244C>T
ENST00000683380.1:n.1647C>T
ENST00000683907.1:c.248C>T	ENSP00000507754.1:n.248C>T
ENST00000684172.1:c.359C>T	ENSP00000508391.1:n.359C>T
ENST00000684259.1:n.3750C>T
ENST00000684538.1:n.1362C>T
ENST00000684549.1:n.1534C>T
ENST00000261534.9:c.1983C>T MANE Select	ENSP00000261534.4:p.Leu661=
ENST00000261534.8:c.1983C>T	ENSP00000261534.4:p.Leu661=
ENST00000452340.7:n.2959C>T
ENST00000554767.5:n.2769C>T
ENST00000555710.1:c.344C>T	ENSP00000451730.1:n.344C>T
ENST00000556171.1:c.575C>T
ENST00000556394.1:c.88-270C>T
ENST00000556446.1:n.284C>T
ENST00000602717.5:c.198C>T	ENSP00000487704.1:p.Leu66=
NM_013382.5:c.1983C>T , LRG_844t1:c.1983C>T	NP_037514.2:p.Leu661=
XM_011536675.1:c.2172C>T	XP_011534977.1:p.Leu724=
XM_011536676.1:c.1839C>T	XP_011534978.1:p.Leu613=
XM_011536677.1:c.1713C>T	XP_011534979.1:p.Leu571=
XM_011536679.1:c.1266C>T	XP_011534981.1:p.Leu422=
XR_943416.1:n.2236C>T
XM_011536675.2:c.2172C>T	XP_011534977.1:p.Leu724=
XM_011536676.2:c.1839C>T	XP_011534978.1:p.Leu613=
XM_011536677.3:c.1713C>T	XP_011534979.1:p.Leu571=
XR_001750279.1:n.2269C>T
XR_001750282.1:n.2922C>T
XR_943416.3:n.2234C>T
NM_013382.6:c.1983C>T	NP_037514.2:p.Leu661=
NM_013382.7:c.1983C>T MANE Select	NP_037514.2:p.Leu661=