Canonical Allele Identifier: CA374034892
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 541282
ClinVar RCV Id: RCV000651515
dbSNP Id: rs1554705383
MyVariant Identifiers: chr9:g.95481005A>G (hg19) chr9:g.92718723A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718723A>G , CM000671.2:g.92718723A>G GRCh38
NC_000009.11:g.95481005A>G , CM000671.1:g.95481005A>G GRCh37
NC_000009.10:g.94520826A>G NCBI36
NG_033908.1:g.51079T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1922T>C MANE Select ENSP00000349351.6:p.Leu641Pro
ENST00000356884.10:c.1922T>C ENSP00000349351.6:p.Leu641Pro
ENST00000375512.3:c.1922T>C ENSP00000364662.3:p.Leu641Pro
NM_001003800.1:c.1922T>C NP_001003800.1:p.Leu641Pro
NM_015250.3:c.1922T>C NP_056065.1:p.Leu641Pro
XM_017014551.1:c.2003T>C XP_016870040.1:p.Leu668Pro
NM_001003800.2:c.1922T>C MANE Select NP_001003800.1:p.Leu641Pro
NM_015250.4:c.1922T>C NP_056065.1:p.Leu641Pro
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