Canonical Allele Identifier: CA5126455
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs756663748
ExAC: 9:95481015 T / C
gnomAD v2: 9-95481015-T-C
gnomAD v3: 9-92718733-T-C
gnomAD v4: 9-92718733-T-C
MyVariant Identifiers: chr9:g.95481015T>C (hg19) chr9:g.92718733T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718733T>C , CM000671.2:g.92718733T>C GRCh38
NC_000009.11:g.95481015T>C , CM000671.1:g.95481015T>C GRCh37
NC_000009.10:g.94520836T>C NCBI36
NG_033908.1:g.51069A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1912A>G MANE Select ENSP00000349351.6:p.Ile638Val
ENST00000356884.10:c.1912A>G ENSP00000349351.6:p.Ile638Val
ENST00000375512.3:c.1912A>G ENSP00000364662.3:p.Ile638Val
NM_001003800.1:c.1912A>G NP_001003800.1:p.Ile638Val
NM_015250.3:c.1912A>G NP_056065.1:p.Ile638Val
XM_017014551.1:c.1993A>G XP_016870040.1:p.Ile665Val
NM_001003800.2:c.1912A>G MANE Select NP_001003800.1:p.Ile638Val
NM_015250.4:c.1912A>G NP_056065.1:p.Ile638Val
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