Canonical Allele Identifier: CA374033655
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs1332376533
gnomAD v2: 9-95480835-T-C
gnomAD v4: 9-92718553-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718553T>C , CM000671.2:g.92718553T>C GRCh38
NC_000009.11:g.95480835T>C , CM000671.1:g.95480835T>C GRCh37
NC_000009.10:g.94520656T>C NCBI36
NG_033908.1:g.51249A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2092A>G MANE Select ENSP00000349351.6:p.Lys698Glu
ENST00000356884.10:c.2092A>G ENSP00000349351.6:p.Lys698Glu
ENST00000375512.3:c.2092A>G ENSP00000364662.3:p.Lys698Glu
NM_001003800.1:c.2092A>G NP_001003800.1:p.Lys698Glu
NM_015250.3:c.2092A>G NP_056065.1:p.Lys698Glu
XM_017014551.1:c.2173A>G XP_016870040.1:p.Lys725Glu
NM_001003800.2:c.2092A>G MANE Select NP_001003800.1:p.Lys698Glu
NM_015250.4:c.2092A>G NP_056065.1:p.Lys698Glu