Canonical Allele Identifier: CA390513559

Gene: POMT2

Linked Data

• dbSNP Id: rs1299147484
• gnomAD v2: 14-77744813-C-T
• gnomAD v4: 14-77278470-C-T
• MyVariant Identifiers: chr14:g.77744813C>T (hg19) ; chr14:g.77278470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278470C>T , CM000676.2:g.77278470C>T	GRCh38
NC_000014.8:g.77744813C>T , CM000676.1:g.77744813C>T	GRCh37
NC_000014.7:g.76814566C>T	NCBI36
NG_008897.1:g.47413G>A , LRG_844:g.47413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.996G>A
ENST00000556394.2:c.1612G>A	ENSP00000451967.2:p.Gly538Ser
ENST00000682247.1:c.2060G>A	ENSP00000507213.1:p.Gly687Glu
ENST00000682395.1:n.2535G>A
ENST00000682459.1:n.1774G>A
ENST00000682467.1:c.1930G>A	ENSP00000508062.1:p.Gly644Ser
ENST00000682795.1:c.2218G>A	ENSP00000507574.1:p.Gly740Ser
ENST00000682895.1:n.1787G>A
ENST00000682955.1:n.1645G>A
ENST00000683188.1:c.2332G>A
ENST00000683380.1:n.1735G>A
ENST00000683907.1:c.336G>A	ENSP00000507754.1:n.336G>A
ENST00000684259.1:n.3838G>A
ENST00000684538.1:n.1450G>A
ENST00000684549.1:n.1622G>A
ENST00000261534.9:c.2071G>A MANE Select	ENSP00000261534.4:p.Gly691Ser
ENST00000261534.8:c.2071G>A	ENSP00000261534.4:p.Gly691Ser
ENST00000452340.7:n.3047G>A
ENST00000554767.5:n.2857G>A
ENST00000555710.1:c.432G>A	ENSP00000451730.1:n.432G>A
ENST00000556394.1:c.126G>A
ENST00000556446.1:n.372G>A
ENST00000602717.5:c.286G>A	ENSP00000487704.1:p.Gly96Ser
NM_013382.5:c.2071G>A , LRG_844t1:c.2071G>A	NP_037514.2:p.Gly691Ser
XM_011536675.1:c.2260G>A	XP_011534977.1:p.Gly754Ser
XM_011536676.1:c.1927G>A	XP_011534978.1:p.Gly643Ser
XM_011536677.1:c.1801G>A	XP_011534979.1:p.Gly601Ser
XM_011536679.1:c.1354G>A	XP_011534981.1:p.Gly452Ser
XR_943416.1:n.2324G>A
XM_011536675.2:c.2260G>A	XP_011534977.1:p.Gly754Ser
XM_011536676.2:c.1927G>A	XP_011534978.1:p.Gly643Ser
XM_011536677.3:c.1801G>A	XP_011534979.1:p.Gly601Ser
XR_001750279.1:n.2357G>A
XR_001750282.1:n.3010G>A
XR_943416.3:n.2322G>A
NM_013382.6:c.2071G>A	NP_037514.2:p.Gly691Ser
NM_013382.7:c.2071G>A MANE Select	NP_037514.2:p.Gly691Ser