Canonical Allele Identifier: CA5126500
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs767745546
gnomAD v2: 9-95481204-G-A
gnomAD v4: 9-92718922-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718922G>A , CM000671.2:g.92718922G>A GRCh38
NC_000009.11:g.95481204G>A , CM000671.1:g.95481204G>A GRCh37
NC_000009.10:g.94521025G>A NCBI36
NG_033908.1:g.50880C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1723C>T MANE Select ENSP00000349351.6:p.Pro575Ser
ENST00000356884.10:c.1723C>T ENSP00000349351.6:p.Pro575Ser
ENST00000375512.3:c.1723C>T ENSP00000364662.3:p.Pro575Ser
NM_001003800.1:c.1723C>T NP_001003800.1:p.Pro575Ser
NM_015250.3:c.1723C>T NP_056065.1:p.Pro575Ser
XM_017014551.1:c.1804C>T XP_016870040.1:p.Pro602Ser
NM_001003800.2:c.1723C>T MANE Select NP_001003800.1:p.Pro575Ser
NM_015250.4:c.1723C>T NP_056065.1:p.Pro575Ser