Canonical Allele Identifier: CA390513597

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278479-A-G
• MyVariant Identifiers: chr14:g.77744822A>G (hg19) ; chr14:g.77278479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278479A>G , CM000676.2:g.77278479A>G	GRCh38
NC_000014.8:g.77744822A>G , CM000676.1:g.77744822A>G	GRCh37
NC_000014.7:g.76814575A>G	NCBI36
NG_008897.1:g.47404T>C , LRG_844:g.47404T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.987T>C
ENST00000556394.2:c.1603T>C	ENSP00000451967.2:p.Cys535Arg
ENST00000682247.1:c.2051T>C	ENSP00000507213.1:p.Leu684Pro
ENST00000682395.1:n.2526T>C
ENST00000682459.1:n.1765T>C
ENST00000682467.1:c.1921T>C	ENSP00000508062.1:p.Cys641Arg
ENST00000682795.1:c.2209T>C	ENSP00000507574.1:p.Cys737Arg
ENST00000682895.1:n.1778T>C
ENST00000682955.1:n.1636T>C
ENST00000683188.1:c.2323T>C
ENST00000683380.1:n.1726T>C
ENST00000683907.1:c.327T>C	ENSP00000507754.1:n.327T>C
ENST00000684259.1:n.3829T>C
ENST00000684538.1:n.1441T>C
ENST00000684549.1:n.1613T>C
ENST00000261534.9:c.2062T>C MANE Select	ENSP00000261534.4:p.Cys688Arg
ENST00000261534.8:c.2062T>C	ENSP00000261534.4:p.Cys688Arg
ENST00000452340.7:n.3038T>C
ENST00000554767.5:n.2848T>C
ENST00000555710.1:c.423T>C	ENSP00000451730.1:n.423T>C
ENST00000556394.1:c.117T>C
ENST00000556446.1:n.363T>C
ENST00000602717.5:c.277T>C	ENSP00000487704.1:p.Cys93Arg
NM_013382.5:c.2062T>C , LRG_844t1:c.2062T>C	NP_037514.2:p.Cys688Arg
XM_011536675.1:c.2251T>C	XP_011534977.1:p.Cys751Arg
XM_011536676.1:c.1918T>C	XP_011534978.1:p.Cys640Arg
XM_011536677.1:c.1792T>C	XP_011534979.1:p.Cys598Arg
XM_011536679.1:c.1345T>C	XP_011534981.1:p.Cys449Arg
XR_943416.1:n.2315T>C
XM_011536675.2:c.2251T>C	XP_011534977.1:p.Cys751Arg
XM_011536676.2:c.1918T>C	XP_011534978.1:p.Cys640Arg
XM_011536677.3:c.1792T>C	XP_011534979.1:p.Cys598Arg
XR_001750279.1:n.2348T>C
XR_001750282.1:n.3001T>C
XR_943416.3:n.2313T>C
NM_013382.6:c.2062T>C	NP_037514.2:p.Cys688Arg
NM_013382.7:c.2062T>C MANE Select	NP_037514.2:p.Cys688Arg