Canonical Allele Identifier: CA374036624

Gene: BICD2

Linked Data

• ClinVar Variation Id: 1776888
• ClinVar RCV Id: RCV002401337
• MyVariant Identifiers: chr9:g.95481293T>C (hg19) ; chr9:g.92719011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92719011T>C , CM000671.2:g.92719011T>C	GRCh38
NC_000009.11:g.95481293T>C , CM000671.1:g.95481293T>C	GRCh37
NC_000009.10:g.94521114T>C	NCBI36
NG_033908.1:g.50791A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356884.11:c.1634A>G MANE Select	ENSP00000349351.6:p.Asn545Ser
ENST00000356884.10:c.1634A>G	ENSP00000349351.6:p.Asn545Ser
ENST00000375512.3:c.1634A>G	ENSP00000364662.3:p.Asn545Ser
NM_001003800.1:c.1634A>G	NP_001003800.1:p.Asn545Ser
NM_015250.3:c.1634A>G	NP_056065.1:p.Asn545Ser
XM_017014551.1:c.1715A>G	XP_016870040.1:p.Asn572Ser
NM_001003800.2:c.1634A>G MANE Select	NP_001003800.1:p.Asn545Ser
NM_015250.4:c.1634A>G	NP_056065.1:p.Asn545Ser