Canonical Allele Identifier: CA196339713

Gene: BICD2

Linked Data

• dbSNP Id: rs968594030
• gnomAD v2: 9-95480867-C-T
• gnomAD v4: 9-92718585-C-T
• MyVariant Identifiers: chr9:g.95480867C>T (hg19) ; chr9:g.92718585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718585C>T , CM000671.2:g.92718585C>T	GRCh38
NC_000009.11:g.95480867C>T , CM000671.1:g.95480867C>T	GRCh37
NC_000009.10:g.94520688C>T	NCBI36
NG_033908.1:g.51217G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.2060G>A MANE Select	ENSP00000349351.6:p.Arg687Gln
ENST00000356884.10:c.2060G>A	ENSP00000349351.6:p.Arg687Gln
ENST00000375512.3:c.2060G>A	ENSP00000364662.3:p.Arg687Gln
NM_001003800.1:c.2060G>A	NP_001003800.1:p.Arg687Gln
NM_015250.3:c.2060G>A	NP_056065.1:p.Arg687Gln
XM_017014551.1:c.2141G>A	XP_016870040.1:p.Arg714Gln
NM_001003800.2:c.2060G>A MANE Select	NP_001003800.1:p.Arg687Gln
NM_015250.4:c.2060G>A	NP_056065.1:p.Arg687Gln