Canonical Allele Identifier: CA200959

Gene: POMT2

Linked Data

• ClinVar Variation Id: 194086
• ClinVar RCV Id: RCV000174368 ; RCV000534768 ; RCV001721104
• dbSNP Id: rs151078549
• ExAC: 14:77753157 C / T
• gnomAD v2: 14-77753157-C-T
• gnomAD v3: 14-77286814-C-T
• gnomAD v4: 14-77286814-C-T
• MyVariant Identifiers: chr14:g.77753157C>T (hg19) ; chr14:g.77286814C>T (hg38)
• PubMed: PMID:25267602

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286814C>T , CM000676.2:g.77286814C>T	GRCh38
NC_000014.8:g.77753157C>T , CM000676.1:g.77753157C>T	GRCh37
NC_000014.7:g.76822910C>T	NCBI36
NG_008897.1:g.39069G>A , LRG_844:g.39069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.803G>A	ENSP00000451967.2:p.Arg268Gln
ENST00000682247.1:c.1262G>A	ENSP00000507213.1:p.Arg421Gln
ENST00000682382.1:c.834G>A
ENST00000682395.1:n.1440G>A
ENST00000682459.1:n.965G>A
ENST00000682467.1:c.1262G>A	ENSP00000508062.1:p.Arg421Gln
ENST00000682706.1:n.39G>A
ENST00000682795.1:c.1262G>A	ENSP00000507574.1:p.Arg421Gln
ENST00000682895.1:n.978G>A
ENST00000682955.1:n.550G>A
ENST00000683188.1:c.1237G>A
ENST00000683328.1:c.255G>A	ENSP00000508096.1:n.255G>A
ENST00000683380.1:n.926G>A
ENST00000683828.1:c.971G>A
ENST00000684259.1:n.1113G>A
ENST00000684444.1:c.9G>A
ENST00000684549.1:n.813G>A
ENST00000261534.9:c.1262G>A MANE Select	ENSP00000261534.4:p.Arg421Gln
ENST00000261534.8:c.1262G>A	ENSP00000261534.4:p.Arg421Gln
ENST00000452340.7:n.1285G>A
ENST00000553880.5:n.133G>A
ENST00000554767.5:n.2048G>A
ENST00000554884.5:n.254G>A
ENST00000556404.1:n.396G>A
ENST00000556851.1:n.298G>A
ENST00000557675.5:n.352G>A
NM_013382.5:c.1262G>A , LRG_844t1:c.1262G>A	NP_037514.2:p.Arg421Gln
XM_011536675.1:c.1262G>A	XP_011534977.1:p.Arg421Gln
XM_011536676.1:c.929G>A	XP_011534978.1:p.Arg310Gln
XM_011536677.1:c.803G>A	XP_011534979.1:p.Arg268Gln
XM_011536678.1:c.1262G>A	XP_011534980.1:p.Arg421Gln
XM_011536679.1:c.356G>A	XP_011534981.1:p.Arg119Gln
XR_943416.1:n.1465G>A
XM_011536675.2:c.1262G>A	XP_011534977.1:p.Arg421Gln
XM_011536676.2:c.929G>A	XP_011534978.1:p.Arg310Gln
XM_011536677.3:c.803G>A	XP_011534979.1:p.Arg268Gln
XR_001750279.1:n.1462G>A
XR_001750282.1:n.1915G>A
XR_943416.3:n.1463G>A
NM_013382.6:c.1262G>A	NP_037514.2:p.Arg421Gln
NM_013382.7:c.1262G>A MANE Select	NP_037514.2:p.Arg421Gln