Canonical Allele Identifier: CA390513678

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278500-A-G
• MyVariant Identifiers: chr14:g.77744843A>G (hg19) ; chr14:g.77278500A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278500A>G , CM000676.2:g.77278500A>G	GRCh38
NC_000014.8:g.77744843A>G , CM000676.1:g.77744843A>G	GRCh37
NC_000014.7:g.76814596A>G	NCBI36
NG_008897.1:g.47383T>C , LRG_844:g.47383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.966T>C
ENST00000556394.2:c.1582T>C	ENSP00000451967.2:p.Trp528Arg
ENST00000682247.1:c.2030T>C	ENSP00000507213.1:p.Val677Ala
ENST00000682395.1:n.2505T>C
ENST00000682459.1:n.1744T>C
ENST00000682467.1:c.1900T>C	ENSP00000508062.1:p.Trp634Arg
ENST00000682795.1:c.2188T>C	ENSP00000507574.1:p.Trp730Arg
ENST00000682895.1:n.1757T>C
ENST00000682955.1:n.1615T>C
ENST00000683188.1:c.2302T>C
ENST00000683380.1:n.1705T>C
ENST00000683907.1:c.306T>C	ENSP00000507754.1:n.306T>C
ENST00000684259.1:n.3808T>C
ENST00000684538.1:n.1420T>C
ENST00000684549.1:n.1592T>C
ENST00000261534.9:c.2041T>C MANE Select	ENSP00000261534.4:p.Trp681Arg
ENST00000261534.8:c.2041T>C	ENSP00000261534.4:p.Trp681Arg
ENST00000452340.7:n.3017T>C
ENST00000554767.5:n.2827T>C
ENST00000555710.1:c.402T>C	ENSP00000451730.1:n.402T>C
ENST00000556394.1:c.96T>C
ENST00000556446.1:n.342T>C
ENST00000602717.5:c.256T>C	ENSP00000487704.1:p.Trp86Arg
NM_013382.5:c.2041T>C , LRG_844t1:c.2041T>C	NP_037514.2:p.Trp681Arg
XM_011536675.1:c.2230T>C	XP_011534977.1:p.Trp744Arg
XM_011536676.1:c.1897T>C	XP_011534978.1:p.Trp633Arg
XM_011536677.1:c.1771T>C	XP_011534979.1:p.Trp591Arg
XM_011536679.1:c.1324T>C	XP_011534981.1:p.Trp442Arg
XR_943416.1:n.2294T>C
XM_011536675.2:c.2230T>C	XP_011534977.1:p.Trp744Arg
XM_011536676.2:c.1897T>C	XP_011534978.1:p.Trp633Arg
XM_011536677.3:c.1771T>C	XP_011534979.1:p.Trp591Arg
XR_001750279.1:n.2327T>C
XR_001750282.1:n.2980T>C
XR_943416.3:n.2292T>C
NM_013382.6:c.2041T>C	NP_037514.2:p.Trp681Arg
NM_013382.7:c.2041T>C MANE Select	NP_037514.2:p.Trp681Arg