Canonical Allele Identifier: CA374033611
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs1194853459
gnomAD v2: 9-95480831-G-A
gnomAD v3: 9-92718549-G-A
gnomAD v4: 9-92718549-G-A
MyVariant Identifiers: chr9:g.95480831G>A (hg19) chr9:g.92718549G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718549G>A , CM000671.2:g.92718549G>A GRCh38
NC_000009.11:g.95480831G>A , CM000671.1:g.95480831G>A GRCh37
NC_000009.10:g.94520652G>A NCBI36
NG_033908.1:g.51253C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2096C>T MANE Select ENSP00000349351.6:p.Ala699Val
ENST00000356884.10:c.2096C>T ENSP00000349351.6:p.Ala699Val
ENST00000375512.3:c.2096C>T ENSP00000364662.3:p.Ala699Val
NM_001003800.1:c.2096C>T NP_001003800.1:p.Ala699Val
NM_015250.3:c.2096C>T NP_056065.1:p.Ala699Val
XM_017014551.1:c.2177C>T XP_016870040.1:p.Ala726Val
NM_001003800.2:c.2096C>T MANE Select NP_001003800.1:p.Ala699Val
NM_015250.4:c.2096C>T NP_056065.1:p.Ala699Val
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