Canonical Allele Identifier: CA5126498
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 439433
ClinVar RCV Id: RCV002404319
dbSNP Id: rs201343832
ExAC: 9:95481202 G / C
gnomAD v2: 9-95481202-G-C
gnomAD v3: 9-92718920-G-C
gnomAD v4: 9-92718920-G-C
MyVariant Identifiers: chr9:g.95481202G>C (hg19) chr9:g.92718920G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718920G>C , CM000671.2:g.92718920G>C GRCh38
NC_000009.11:g.95481202G>C , CM000671.1:g.95481202G>C GRCh37
NC_000009.10:g.94521023G>C NCBI36
NG_033908.1:g.50882C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1725C>G MANE Select ENSP00000349351.6:p.Pro575=
ENST00000356884.10:c.1725C>G ENSP00000349351.6:p.Pro575=
ENST00000375512.3:c.1725C>G ENSP00000364662.3:p.Pro575=
NM_001003800.1:c.1725C>G NP_001003800.1:p.Pro575=
NM_015250.3:c.1725C>G NP_056065.1:p.Pro575=
XM_017014551.1:c.1806C>G XP_016870040.1:p.Pro602=
NM_001003800.2:c.1725C>G MANE Select NP_001003800.1:p.Pro575=
NM_015250.4:c.1725C>G NP_056065.1:p.Pro575=
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