Canonical Allele Identifier: CA248469

Gene: OLFML2B

Linked Data

• ClinVar Variation Id: 217141
• ClinVar RCV Id: RCV000201204
• dbSNP Id: rs185436876
• ExAC: 1:161954639 C / T
• gnomAD v2: 1-161954639-C-T
• gnomAD v3: 1-161984849-C-T
• gnomAD v4: 1-161984849-C-T
• MyVariant Identifiers: chr1:g.161954639C>T (hg19) ; chr1:g.161984849C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161984849C>T , CM000663.2:g.161984849C>T	GRCh38
NC_000001.10:g.161954639C>T , CM000663.1:g.161954639C>T	GRCh37
NC_000001.9:g.160221263C>T	NCBI36
NG_052853.1:g.44617G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294794.8:c.1606G>A MANE Select	ENSP00000294794.3:p.Gly536Ser
ENST00000294794.7:c.1606G>A	ENSP00000294794.3:p.Gly536Ser
ENST00000367938.1:c.55G>A	ENSP00000356915.1:p.Gly19Ser
ENST00000367940.2:c.1609G>A	ENSP00000356917.2:p.Gly537Ser
NM_001297713.1:c.1609G>A	NP_001284642.1:p.Gly537Ser
NM_015441.2:c.1606G>A	NP_056256.1:p.Gly536Ser
XM_005245075.2:c.1612G>A	XP_005245132.1:p.Gly538Ser
XM_011509398.1:c.886G>A	XP_011507700.1:p.Gly296Ser
NM_001347700.1:c.1612G>A	NP_001334629.1:p.Gly538Ser
XM_011509398.2:c.886G>A	XP_011507700.1:p.Gly296Ser
NM_001297713.2:c.1609G>A	NP_001284642.1:p.Gly537Ser
NM_001347700.2:c.1612G>A	NP_001334629.1:p.Gly538Ser
NM_015441.3:c.1606G>A MANE Select	NP_056256.1:p.Gly536Ser