Canonical Allele Identifier: CA374036735
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2636434
ClinVar RCV Id: RCV003422465
MyVariant Identifiers: chr9:g.95481308T>C (hg19) chr9:g.92719026T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719026T>C , CM000671.2:g.92719026T>C GRCh38
NC_000009.11:g.95481308T>C , CM000671.1:g.95481308T>C GRCh37
NC_000009.10:g.94521129T>C NCBI36
NG_033908.1:g.50776A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1619A>G MANE Select ENSP00000349351.6:p.His540Arg
ENST00000356884.10:c.1619A>G ENSP00000349351.6:p.His540Arg
ENST00000375512.3:c.1619A>G ENSP00000364662.3:p.His540Arg
NM_001003800.1:c.1619A>G NP_001003800.1:p.His540Arg
NM_015250.3:c.1619A>G NP_056065.1:p.His540Arg
XM_017014551.1:c.1700A>G XP_016870040.1:p.His567Arg
NM_001003800.2:c.1619A>G MANE Select NP_001003800.1:p.His540Arg
NM_015250.4:c.1619A>G NP_056065.1:p.His540Arg
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