Canonical Allele Identifier: CA10606511

Gene: POMT2

Linked Data

• ClinVar Variation Id: 289655
• ClinVar RCV Id: RCV000318103 ; RCV003765671
• dbSNP Id: rs886044233
• MyVariant Identifiers: chr14:g.77786923G>C (hg19) ; chr14:g.77320580G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77320580G>C , CM000676.2:g.77320580G>C	GRCh38
NC_000014.8:g.77786923G>C , CM000676.1:g.77786923G>C	GRCh37
NC_000014.7:g.76856676G>C	NCBI36
NG_008897.1:g.5303C>G , LRG_844:g.5303C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.102C>G	ENSP00000451967.2:p.Ala34=
ENST00000682247.1:c.102C>G	ENSP00000507213.1:p.Ala34=
ENST00000682382.1:c.50C>G
ENST00000682467.1:c.102C>G	ENSP00000508062.1:p.Ala34=
ENST00000682795.1:c.102C>G	ENSP00000507574.1:p.Ala34=
ENST00000684344.1:c.102C>G	ENSP00000507432.1:p.Ala34=
ENST00000684534.1:n.125C>G
ENST00000261534.9:c.102C>G MANE Select	ENSP00000261534.4:p.Ala34=
ENST00000261534.8:c.102C>G	ENSP00000261534.4:p.Ala34=
ENST00000452340.7:n.125C>G
ENST00000556326.5:c.102C>G	ENSP00000450630.1:p.Ala34=
NM_013382.5:c.102C>G , LRG_844t1:c.102C>G	NP_037514.2:p.Ala34=
XM_011536675.1:c.102C>G	XP_011534977.1:p.Ala34=
XM_011536676.1:c.-147C>G	XP_011534978.1:n.-147C>G
XM_011536677.1:c.102C>G	XP_011534979.1:p.Ala34=
XM_011536678.1:c.102C>G	XP_011534980.1:p.Ala34=
XM_011536680.1:c.102C>G	XP_011534982.1:p.Ala34=
XR_943416.1:n.305C>G
XM_011536675.2:c.102C>G	XP_011534977.1:p.Ala34=
XM_011536676.2:c.-147C>G	XP_011534978.1:n.-147C>G
XM_011536677.3:c.102C>G	XP_011534979.1:p.Ala34=
XR_001750279.1:n.302C>G
XR_001750282.1:n.306C>G
XR_943416.3:n.303C>G
NM_013382.6:c.102C>G	NP_037514.2:p.Ala34=
NM_013382.7:c.102C>G MANE Select	NP_037514.2:p.Ala34=