Canonical Allele Identifier: CA390520346

Gene: POMT2

Linked Data

• dbSNP Id: rs1161879094
• gnomAD v3: 14-77301222-C-A
• gnomAD v4: 14-77301222-C-A
• MyVariant Identifiers: chr14:g.77767565C>A (hg19) ; chr14:g.77301222C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301222C>A , CM000676.2:g.77301222C>A	GRCh38
NC_000014.8:g.77767565C>A , CM000676.1:g.77767565C>A	GRCh37
NC_000014.7:g.76837318C>A	NCBI36
NG_008897.1:g.24661G>T , LRG_844:g.24661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.137G>T	ENSP00000508202.1:p.Gly46Val
ENST00000556394.2:c.358-1661G>T	ENSP00000451967.2:n.358-1661G>T
ENST00000556880.6:n.708G>T
ENST00000557289.2:c.28G>T
ENST00000682247.1:c.684G>T	ENSP00000507213.1:p.Trp228Cys
ENST00000682382.1:c.496-2451G>T
ENST00000682395.1:n.413G>T
ENST00000682459.1:n.348G>T
ENST00000682467.1:c.684G>T	ENSP00000508062.1:p.Trp228Cys
ENST00000682795.1:c.684G>T	ENSP00000507574.1:p.Trp228Cys
ENST00000682895.1:n.400G>T
ENST00000682955.1:n.212-2451G>T
ENST00000683167.1:c.28G>T
ENST00000683188.1:c.343-1661G>T
ENST00000683300.1:c.109+3470G>T	ENSP00000507630.1:n.109+3470G>T
ENST00000683328.1:c.109+3470G>T	ENSP00000508096.1:n.109+3470G>T
ENST00000683380.1:n.348G>T
ENST00000683398.1:c.28G>T
ENST00000683551.1:c.109+1613G>T
ENST00000683828.1:c.525+1613G>T
ENST00000684259.1:n.535G>T
ENST00000684549.1:n.368-1661G>T
ENST00000684554.1:c.28G>T
ENST00000261534.9:c.684G>T MANE Select	ENSP00000261534.4:p.Trp228Cys
ENST00000261534.8:c.684G>T	ENSP00000261534.4:p.Trp228Cys
ENST00000452340.7:n.707G>T
ENST00000553863.5:n.348G>T
ENST00000554948.1:c.411G>T	ENSP00000452060.1:p.Trp137Cys
ENST00000555675.5:n.400G>T
ENST00000556326.5:c.*350G>T	ENSP00000450630.1:n.*350G>T
ENST00000557289.1:c.56-1661G>T	ENSP00000451115.1:n.56-1661G>T
NM_013382.5:c.684G>T , LRG_844t1:c.684G>T	NP_037514.2:p.Trp228Cys
XM_011536675.1:c.684G>T	XP_011534977.1:p.Trp228Cys
XM_011536676.1:c.351G>T	XP_011534978.1:p.Trp117Cys
XM_011536677.1:c.547+3470G>T	XP_011534979.1:n.547+3470G>T
XM_011536678.1:c.684G>T	XP_011534980.1:p.Trp228Cys
XM_011536679.1:c.-90-1661G>T	XP_011534981.1:n.-90-1661G>T
XM_011536680.1:c.684G>T	XP_011534982.1:p.Trp228Cys
XR_943416.1:n.887G>T
XM_011536675.2:c.684G>T	XP_011534977.1:p.Trp228Cys
XM_011536676.2:c.351G>T	XP_011534978.1:p.Trp117Cys
XM_011536677.3:c.547+3470G>T	XP_011534979.1:n.547+3470G>T
XR_001750279.1:n.884G>T
XR_001750282.1:n.888G>T
XR_943416.3:n.885G>T
NM_013382.6:c.684G>T	NP_037514.2:p.Trp228Cys
NM_013382.7:c.684G>T MANE Select	NP_037514.2:p.Trp228Cys