Canonical Allele Identifier: CA390520384

Gene: POMT2

Linked Data

• dbSNP Id: rs1891029005
• gnomAD v4: 14-77301238-G-A
• COSMIC: COSM5074008
• MyVariant Identifiers: chr14:g.77767581G>A (hg19) ; chr14:g.77301238G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301238G>A , CM000676.2:g.77301238G>A	GRCh38
NC_000014.8:g.77767581G>A , CM000676.1:g.77767581G>A	GRCh37
NC_000014.7:g.76837334G>A	NCBI36
NG_008897.1:g.24645C>T , LRG_844:g.24645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.121C>T	ENSP00000508202.1:p.Pro41Ser
ENST00000556394.2:c.358-1677C>T	ENSP00000451967.2:n.358-1677C>T
ENST00000556880.6:n.692C>T
ENST00000557289.2:c.12C>T
ENST00000682247.1:c.668C>T	ENSP00000507213.1:p.Ala223Val
ENST00000682382.1:c.496-2467C>T
ENST00000682395.1:n.397C>T
ENST00000682459.1:n.332C>T
ENST00000682467.1:c.668C>T	ENSP00000508062.1:p.Ala223Val
ENST00000682795.1:c.668C>T	ENSP00000507574.1:p.Ala223Val
ENST00000682895.1:n.384C>T
ENST00000682955.1:n.212-2467C>T
ENST00000683167.1:c.12C>T
ENST00000683188.1:c.343-1677C>T
ENST00000683300.1:c.109+3454C>T	ENSP00000507630.1:n.109+3454C>T
ENST00000683328.1:c.109+3454C>T	ENSP00000508096.1:n.109+3454C>T
ENST00000683380.1:n.332C>T
ENST00000683398.1:c.12C>T
ENST00000683551.1:c.109+1597C>T
ENST00000683828.1:c.525+1597C>T
ENST00000684259.1:n.519C>T
ENST00000684549.1:n.368-1677C>T
ENST00000684554.1:c.12C>T
ENST00000261534.9:c.668C>T MANE Select	ENSP00000261534.4:p.Ala223Val
ENST00000261534.8:c.668C>T	ENSP00000261534.4:p.Ala223Val
ENST00000452340.7:n.691C>T
ENST00000553863.5:n.332C>T
ENST00000554948.1:c.395C>T	ENSP00000452060.1:p.Ala132Val
ENST00000555675.5:n.384C>T
ENST00000556326.5:c.*334C>T	ENSP00000450630.1:n.*334C>T
ENST00000557289.1:c.56-1677C>T	ENSP00000451115.1:n.56-1677C>T
NM_013382.5:c.668C>T , LRG_844t1:c.668C>T	NP_037514.2:p.Ala223Val
XM_011536675.1:c.668C>T	XP_011534977.1:p.Ala223Val
XM_011536676.1:c.335C>T	XP_011534978.1:p.Ala112Val
XM_011536677.1:c.547+3454C>T	XP_011534979.1:n.547+3454C>T
XM_011536678.1:c.668C>T	XP_011534980.1:p.Ala223Val
XM_011536679.1:c.-90-1677C>T	XP_011534981.1:n.-90-1677C>T
XM_011536680.1:c.668C>T	XP_011534982.1:p.Ala223Val
XR_943416.1:n.871C>T
XM_011536675.2:c.668C>T	XP_011534977.1:p.Ala223Val
XM_011536676.2:c.335C>T	XP_011534978.1:p.Ala112Val
XM_011536677.3:c.547+3454C>T	XP_011534979.1:n.547+3454C>T
XR_001750279.1:n.868C>T
XR_001750282.1:n.872C>T
XR_943416.3:n.869C>T
NM_013382.6:c.668C>T	NP_037514.2:p.Ala223Val
NM_013382.7:c.668C>T MANE Select	NP_037514.2:p.Ala223Val