Canonical Allele Identifier: CA374039204
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 933305
ClinVar RCV Id: RCV001201487
dbSNP Id: rs1853407945
gnomAD v4: 9-92719372-A-G
MyVariant Identifiers: chr9:g.95481654A>G (hg19) chr9:g.92719372A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719372A>G , CM000671.2:g.92719372A>G GRCh38
NC_000009.11:g.95481654A>G , CM000671.1:g.95481654A>G GRCh37
NC_000009.10:g.94521475A>G NCBI36
NG_033908.1:g.50430T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1273T>C MANE Select ENSP00000349351.6:p.Tyr425His
ENST00000356884.10:c.1273T>C ENSP00000349351.6:p.Tyr425His
ENST00000375512.3:c.1273T>C ENSP00000364662.3:p.Tyr425His
NM_001003800.1:c.1273T>C NP_001003800.1:p.Tyr425His
NM_015250.3:c.1273T>C NP_056065.1:p.Tyr425His
XM_017014551.1:c.1354T>C XP_016870040.1:p.Tyr452His
NM_001003800.2:c.1273T>C MANE Select NP_001003800.1:p.Tyr425His
NM_015250.4:c.1273T>C NP_056065.1:p.Tyr425His
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