Canonical Allele Identifier: CA374036499
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2111910
ClinVar RCV Id: RCV003024073
MyVariant Identifiers: chr9:g.95481272A>G (hg19) chr9:g.92718990A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718990A>G , CM000671.2:g.92718990A>G GRCh38
NC_000009.11:g.95481272A>G , CM000671.1:g.95481272A>G GRCh37
NC_000009.10:g.94521093A>G NCBI36
NG_033908.1:g.50812T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1655T>C MANE Select ENSP00000349351.6:p.Val552Ala
ENST00000356884.10:c.1655T>C ENSP00000349351.6:p.Val552Ala
ENST00000375512.3:c.1655T>C ENSP00000364662.3:p.Val552Ala
NM_001003800.1:c.1655T>C NP_001003800.1:p.Val552Ala
NM_015250.3:c.1655T>C NP_056065.1:p.Val552Ala
XM_017014551.1:c.1736T>C XP_016870040.1:p.Val579Ala
NM_001003800.2:c.1655T>C MANE Select NP_001003800.1:p.Val552Ala
NM_015250.4:c.1655T>C NP_056065.1:p.Val552Ala
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