Canonical Allele Identifier: CA374036096

Gene: BICD2

Linked Data

• dbSNP Id: rs1199398983
• gnomAD v2: 9-95481179-G-A
• MyVariant Identifiers: chr9:g.95481179G>A (hg19) ; chr9:g.92718897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718897G>A , CM000671.2:g.92718897G>A	GRCh38
NC_000009.11:g.95481179G>A , CM000671.1:g.95481179G>A	GRCh37
NC_000009.10:g.94521000G>A	NCBI36
NG_033908.1:g.50905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1748C>T MANE Select	ENSP00000349351.6:p.Pro583Leu
ENST00000356884.10:c.1748C>T	ENSP00000349351.6:p.Pro583Leu
ENST00000375512.3:c.1748C>T	ENSP00000364662.3:p.Pro583Leu
NM_001003800.1:c.1748C>T	NP_001003800.1:p.Pro583Leu
NM_015250.3:c.1748C>T	NP_056065.1:p.Pro583Leu
XM_017014551.1:c.1829C>T	XP_016870040.1:p.Pro610Leu
NM_001003800.2:c.1748C>T MANE Select	NP_001003800.1:p.Pro583Leu
NM_015250.4:c.1748C>T	NP_056065.1:p.Pro583Leu