Canonical Allele Identifier: CA5126600
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 387286
ClinVar RCV Id: RCV000443972 RCV000874358 RCV002365536
dbSNP Id: rs761796557
ExAC: 9:95481691 G / A
gnomAD v2: 9-95481691-G-A
gnomAD v3: 9-92719409-G-A
gnomAD v4: 9-92719409-G-A
MyVariant Identifiers: chr9:g.95481691G>A (hg19) chr9:g.92719409G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719409G>A , CM000671.2:g.92719409G>A GRCh38
NC_000009.11:g.95481691G>A , CM000671.1:g.95481691G>A GRCh37
NC_000009.10:g.94521512G>A NCBI36
NG_033908.1:g.50393C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1236C>T MANE Select ENSP00000349351.6:p.Asn412=
ENST00000356884.10:c.1236C>T ENSP00000349351.6:p.Asn412=
ENST00000375512.3:c.1236C>T ENSP00000364662.3:p.Asn412=
NM_001003800.1:c.1236C>T NP_001003800.1:p.Asn412=
NM_015250.3:c.1236C>T NP_056065.1:p.Asn412=
XM_017014551.1:c.1317C>T XP_016870040.1:p.Asn439=
NM_001003800.2:c.1236C>T MANE Select NP_001003800.1:p.Asn412=
NM_015250.4:c.1236C>T NP_056065.1:p.Asn412=
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Search 100 bp 3'