Canonical Allele Identifier: CA374036282
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1956451
ClinVar RCV Id: RCV002700855
dbSNP Id: rs1461847619
gnomAD v2: 9-95481224-C-G
MyVariant Identifiers: chr9:g.95481224C>G (hg19) chr9:g.92718942C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718942C>G , CM000671.2:g.92718942C>G GRCh38
NC_000009.11:g.95481224C>G , CM000671.1:g.95481224C>G GRCh37
NC_000009.10:g.94521045C>G NCBI36
NG_033908.1:g.50860G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1703G>C MANE Select ENSP00000349351.6:p.Ser568Thr
ENST00000356884.10:c.1703G>C ENSP00000349351.6:p.Ser568Thr
ENST00000375512.3:c.1703G>C ENSP00000364662.3:p.Ser568Thr
NM_001003800.1:c.1703G>C NP_001003800.1:p.Ser568Thr
NM_015250.3:c.1703G>C NP_056065.1:p.Ser568Thr
XM_017014551.1:c.1784G>C XP_016870040.1:p.Ser595Thr
NM_001003800.2:c.1703G>C MANE Select NP_001003800.1:p.Ser568Thr
NM_015250.4:c.1703G>C NP_056065.1:p.Ser568Thr
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