Canonical Allele Identifier: CA5126531

Gene: BICD2

Linked Data

• dbSNP Id: rs748921807
• ExAC: 9:95481393 C / A
• gnomAD v2: 9-95481393-C-A
• gnomAD v4: 9-92719111-C-A
• MyVariant Identifiers: chr9:g.95481393C>A (hg19) ; chr9:g.92719111C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92719111C>A , CM000671.2:g.92719111C>A	GRCh38
NC_000009.11:g.95481393C>A , CM000671.1:g.95481393C>A	GRCh37
NC_000009.10:g.94521214C>A	NCBI36
NG_033908.1:g.50691G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1534G>T MANE Select	ENSP00000349351.6:p.Val512Phe
ENST00000356884.10:c.1534G>T	ENSP00000349351.6:p.Val512Phe
ENST00000375512.3:c.1534G>T	ENSP00000364662.3:p.Val512Phe
NM_001003800.1:c.1534G>T	NP_001003800.1:p.Val512Phe
NM_015250.3:c.1534G>T	NP_056065.1:p.Val512Phe
XM_017014551.1:c.1615G>T	XP_016870040.1:p.Val539Phe
NM_001003800.2:c.1534G>T MANE Select	NP_001003800.1:p.Val512Phe
NM_015250.4:c.1534G>T	NP_056065.1:p.Val512Phe