Canonical Allele Identifier: CA374040090
Gene: BICD2 HGNC NCBI

Linked Data

gnomAD v4: 9-92719467-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719467T>C , CM000671.2:g.92719467T>C GRCh38
NC_000009.11:g.95481749T>C , CM000671.1:g.95481749T>C GRCh37
NC_000009.10:g.94521570T>C NCBI36
NG_033908.1:g.50335A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1178A>G MANE Select ENSP00000349351.6:p.Asn393Ser
ENST00000356884.10:c.1178A>G ENSP00000349351.6:p.Asn393Ser
ENST00000375512.3:c.1178A>G ENSP00000364662.3:p.Asn393Ser
NM_001003800.1:c.1178A>G NP_001003800.1:p.Asn393Ser
NM_015250.3:c.1178A>G NP_056065.1:p.Asn393Ser
XM_017014551.1:c.1259A>G XP_016870040.1:p.Asn420Ser
NM_001003800.2:c.1178A>G MANE Select NP_001003800.1:p.Asn393Ser
NM_015250.4:c.1178A>G NP_056065.1:p.Asn393Ser