Canonical Allele Identifier: CA5126430

Gene: BICD2

Linked Data

• dbSNP Id: rs766286336
• ExAC: 9:95480922 T / G
• gnomAD v2: 9-95480922-T-G
• gnomAD v4: 9-92718640-T-G
• MyVariant Identifiers: chr9:g.95480922T>G (hg19) ; chr9:g.92718640T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718640T>G , CM000671.2:g.92718640T>G	GRCh38
NC_000009.11:g.95480922T>G , CM000671.1:g.95480922T>G	GRCh37
NC_000009.10:g.94520743T>G	NCBI36
NG_033908.1:g.51162A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.2005A>C MANE Select	ENSP00000349351.6:p.Lys669Gln
ENST00000356884.10:c.2005A>C	ENSP00000349351.6:p.Lys669Gln
ENST00000375512.3:c.2005A>C	ENSP00000364662.3:p.Lys669Gln
NM_001003800.1:c.2005A>C	NP_001003800.1:p.Lys669Gln
NM_015250.3:c.2005A>C	NP_056065.1:p.Lys669Gln
XM_017014551.1:c.2086A>C	XP_016870040.1:p.Lys696Gln
NM_001003800.2:c.2005A>C MANE Select	NP_001003800.1:p.Lys669Gln
NM_015250.4:c.2005A>C	NP_056065.1:p.Lys669Gln