Canonical Allele Identifier: CA390513590

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278478-C-A
• MyVariant Identifiers: chr14:g.77744821C>A (hg19) ; chr14:g.77278478C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278478C>A , CM000676.2:g.77278478C>A	GRCh38
NC_000014.8:g.77744821C>A , CM000676.1:g.77744821C>A	GRCh37
NC_000014.7:g.76814574C>A	NCBI36
NG_008897.1:g.47405G>T , LRG_844:g.47405G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.988G>T
ENST00000556394.2:c.1604G>T	ENSP00000451967.2:p.Cys535Phe
ENST00000682247.1:c.2052G>T	ENSP00000507213.1:p.Leu684=
ENST00000682395.1:n.2527G>T
ENST00000682459.1:n.1766G>T
ENST00000682467.1:c.1922G>T	ENSP00000508062.1:p.Cys641Phe
ENST00000682795.1:c.2210G>T	ENSP00000507574.1:p.Cys737Phe
ENST00000682895.1:n.1779G>T
ENST00000682955.1:n.1637G>T
ENST00000683188.1:c.2324G>T
ENST00000683380.1:n.1727G>T
ENST00000683907.1:c.328G>T	ENSP00000507754.1:n.328G>T
ENST00000684259.1:n.3830G>T
ENST00000684538.1:n.1442G>T
ENST00000684549.1:n.1614G>T
ENST00000261534.9:c.2063G>T MANE Select	ENSP00000261534.4:p.Cys688Phe
ENST00000261534.8:c.2063G>T	ENSP00000261534.4:p.Cys688Phe
ENST00000452340.7:n.3039G>T
ENST00000554767.5:n.2849G>T
ENST00000555710.1:c.424G>T	ENSP00000451730.1:n.424G>T
ENST00000556394.1:c.118G>T
ENST00000556446.1:n.364G>T
ENST00000602717.5:c.278G>T	ENSP00000487704.1:p.Cys93Phe
NM_013382.5:c.2063G>T , LRG_844t1:c.2063G>T	NP_037514.2:p.Cys688Phe
XM_011536675.1:c.2252G>T	XP_011534977.1:p.Cys751Phe
XM_011536676.1:c.1919G>T	XP_011534978.1:p.Cys640Phe
XM_011536677.1:c.1793G>T	XP_011534979.1:p.Cys598Phe
XM_011536679.1:c.1346G>T	XP_011534981.1:p.Cys449Phe
XR_943416.1:n.2316G>T
XM_011536675.2:c.2252G>T	XP_011534977.1:p.Cys751Phe
XM_011536676.2:c.1919G>T	XP_011534978.1:p.Cys640Phe
XM_011536677.3:c.1793G>T	XP_011534979.1:p.Cys598Phe
XR_001750279.1:n.2349G>T
XR_001750282.1:n.3002G>T
XR_943416.3:n.2314G>T
NM_013382.6:c.2063G>T	NP_037514.2:p.Cys688Phe
NM_013382.7:c.2063G>T MANE Select	NP_037514.2:p.Cys688Phe