Canonical Allele Identifier: CA5126454

Gene: BICD2

Linked Data

• dbSNP Id: rs753530258
• ExAC: 9:95481011 T / C
• gnomAD v2: 9-95481011-T-C
• gnomAD v4: 9-92718729-T-C
• MyVariant Identifiers: chr9:g.95481011T>C (hg19) ; chr9:g.92718729T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718729T>C , CM000671.2:g.92718729T>C	GRCh38
NC_000009.11:g.95481011T>C , CM000671.1:g.95481011T>C	GRCh37
NC_000009.10:g.94520832T>C	NCBI36
NG_033908.1:g.51073A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1916A>G MANE Select	ENSP00000349351.6:p.Lys639Arg
ENST00000356884.10:c.1916A>G	ENSP00000349351.6:p.Lys639Arg
ENST00000375512.3:c.1916A>G	ENSP00000364662.3:p.Lys639Arg
NM_001003800.1:c.1916A>G	NP_001003800.1:p.Lys639Arg
NM_015250.3:c.1916A>G	NP_056065.1:p.Lys639Arg
XM_017014551.1:c.1997A>G	XP_016870040.1:p.Lys666Arg
NM_001003800.2:c.1916A>G MANE Select	NP_001003800.1:p.Lys639Arg
NM_015250.4:c.1916A>G	NP_056065.1:p.Lys639Arg