Canonical Allele Identifier: CA374037903
Gene: BICD2 HGNC NCBI

Linked Data

gnomAD v4: 9-92719175-C-A
COSMIC: COSM372486

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719175C>A , CM000671.2:g.92719175C>A GRCh38
NC_000009.11:g.95481457C>A , CM000671.1:g.95481457C>A GRCh37
NC_000009.10:g.94521278C>A NCBI36
NG_033908.1:g.50627G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1470G>T MANE Select ENSP00000349351.6:p.Lys490Asn
ENST00000356884.10:c.1470G>T ENSP00000349351.6:p.Lys490Asn
ENST00000375512.3:c.1470G>T ENSP00000364662.3:p.Lys490Asn
NM_001003800.1:c.1470G>T NP_001003800.1:p.Lys490Asn
NM_015250.3:c.1470G>T NP_056065.1:p.Lys490Asn
XM_017014551.1:c.1551G>T XP_016870040.1:p.Lys517Asn
NM_001003800.2:c.1470G>T MANE Select NP_001003800.1:p.Lys490Asn
NM_015250.4:c.1470G>T NP_056065.1:p.Lys490Asn