Canonical Allele Identifier: CA10625657

Gene: BPNT2

Linked Data

• ClinVar Variation Id: 363407
• ClinVar RCV Id: RCV000288038 ; RCV003114516 ; RCV004022080
• dbSNP Id: rs376366002
• gnomAD v2: 8-57878906-C-A
• gnomAD v3: 8-56966347-C-A
• gnomAD v4: 8-56966347-C-A
• MyVariant Identifiers: chr8:g.57878906C>A (hg19) ; chr8:g.56966347C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56966347C>A , CM000670.2:g.56966347C>A	GRCh38
NC_000008.10:g.57878906C>A , CM000670.1:g.57878906C>A	GRCh37
NC_000008.9:g.58041460C>A	NCBI36
NG_031926.1:g.32525G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262644.9:c.652G>T MANE Select	ENSP00000262644.4:p.Ala218Ser
ENST00000262644.8:c.652G>T	ENSP00000262644.4:p.Ala218Ser
ENST00000517461.1:c.202-1929G>T	ENSP00000430185.1:n.202-1929G>T
ENST00000520392.1:c.289G>T
NM_017813.4:c.652G>T	NP_060283.3:p.Ala218Ser
XR_928786.1:n.1047G>T
XR_928786.2:n.1050G>T
NM_017813.5:c.652G>T MANE Select	NP_060283.3:p.Ala218Ser