Canonical Allele Identifier: CA374040184
Gene: BICD2 HGNC NCBI

Linked Data

gnomAD v4: 9-92719476-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719476A>G , CM000671.2:g.92719476A>G GRCh38
NC_000009.11:g.95481758A>G , CM000671.1:g.95481758A>G GRCh37
NC_000009.10:g.94521579A>G NCBI36
NG_033908.1:g.50326T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1169T>C MANE Select ENSP00000349351.6:p.Leu390Pro
ENST00000356884.10:c.1169T>C ENSP00000349351.6:p.Leu390Pro
ENST00000375512.3:c.1169T>C ENSP00000364662.3:p.Leu390Pro
NM_001003800.1:c.1169T>C NP_001003800.1:p.Leu390Pro
NM_015250.3:c.1169T>C NP_056065.1:p.Leu390Pro
XM_017014551.1:c.1250T>C XP_016870040.1:p.Leu417Pro
NM_001003800.2:c.1169T>C MANE Select NP_001003800.1:p.Leu390Pro
NM_015250.4:c.1169T>C NP_056065.1:p.Leu390Pro