Canonical Allele Identifier: CA223080

Gene: POMT2

Linked Data

• ClinVar Variation Id: 95541
• ClinVar RCV Id: RCV000303743 ; RCV000765180 ; RCV000712838 ; RCV001084326 ; RCV001705757 ; RCV003952518
• dbSNP Id: rs151103906
• ExAC: 14:77786793 C / G
• gnomAD v2: 14-77786793-C-G
• gnomAD v3: 14-77320450-C-G
• gnomAD v4: 14-77320450-C-G
• MyVariant Identifiers: chr14:g.77786793C>G (hg19) ; chr14:g.77320450C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77320450C>G , CM000676.2:g.77320450C>G	GRCh38
NC_000014.8:g.77786793C>G , CM000676.1:g.77786793C>G	GRCh37
NC_000014.7:g.76856546C>G	NCBI36
NG_008897.1:g.5433G>C , LRG_844:g.5433G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.232G>C	ENSP00000451967.2:p.Glu78Gln
ENST00000682247.1:c.232G>C	ENSP00000507213.1:p.Glu78Gln
ENST00000682382.1:c.180G>C
ENST00000682467.1:c.232G>C	ENSP00000508062.1:p.Glu78Gln
ENST00000682795.1:c.232G>C	ENSP00000507574.1:p.Glu78Gln
ENST00000683188.1:c.27G>C
ENST00000683828.1:c.101G>C
ENST00000684344.1:c.232G>C	ENSP00000507432.1:p.Glu78Gln
ENST00000684534.1:n.255G>C
ENST00000261534.9:c.232G>C MANE Select	ENSP00000261534.4:p.Glu78Gln
ENST00000261534.8:c.232G>C	ENSP00000261534.4:p.Glu78Gln
ENST00000452340.7:n.255G>C
ENST00000556326.5:c.232G>C	ENSP00000450630.1:p.Glu78Gln
NM_013382.5:c.232G>C , LRG_844t1:c.232G>C	NP_037514.2:p.Glu78Gln
XM_011536675.1:c.232G>C	XP_011534977.1:p.Glu78Gln
XM_011536676.1:c.-17G>C	XP_011534978.1:n.-17G>C
XM_011536677.1:c.232G>C	XP_011534979.1:p.Glu78Gln
XM_011536678.1:c.232G>C	XP_011534980.1:p.Glu78Gln
XM_011536680.1:c.232G>C	XP_011534982.1:p.Glu78Gln
XR_943416.1:n.435G>C
XM_011536675.2:c.232G>C	XP_011534977.1:p.Glu78Gln
XM_011536676.2:c.-17G>C	XP_011534978.1:n.-17G>C
XM_011536677.3:c.232G>C	XP_011534979.1:p.Glu78Gln
XR_001750279.1:n.432G>C
XR_001750282.1:n.436G>C
XR_943416.3:n.433G>C
NM_013382.6:c.232G>C	NP_037514.2:p.Glu78Gln
NM_013382.7:c.232G>C MANE Select	NP_037514.2:p.Glu78Gln