Canonical Allele Identifier: CA196340312

Gene: BICD2

Linked Data

• dbSNP Id: rs12342172
• gnomAD v2: 9-95481205-G-A
• MyVariant Identifiers: chr9:g.95481205G>A (hg19) ; chr9:g.92718923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718923G>A , CM000671.2:g.92718923G>A	GRCh38
NC_000009.11:g.95481205G>A , CM000671.1:g.95481205G>A	GRCh37
NC_000009.10:g.94521026G>A	NCBI36
NG_033908.1:g.50879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1722C>T MANE Select	ENSP00000349351.6:p.Ser574=
ENST00000356884.10:c.1722C>T	ENSP00000349351.6:p.Ser574=
ENST00000375512.3:c.1722C>T	ENSP00000364662.3:p.Ser574=
NM_001003800.1:c.1722C>T	NP_001003800.1:p.Ser574=
NM_015250.3:c.1722C>T	NP_056065.1:p.Ser574=
XM_017014551.1:c.1803C>T	XP_016870040.1:p.Ser601=
NM_001003800.2:c.1722C>T MANE Select	NP_001003800.1:p.Ser574=
NM_015250.4:c.1722C>T	NP_056065.1:p.Ser574=