Canonical Allele Identifier: CA374040156

Gene: BICD2

Linked Data

• dbSNP Id: rs1403939993
• gnomAD v2: 9-95481755-G-A
• gnomAD v4: 9-92719473-G-A
• MyVariant Identifiers: chr9:g.95481755G>A (hg19) ; chr9:g.92719473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92719473G>A , CM000671.2:g.92719473G>A	GRCh38
NC_000009.11:g.95481755G>A , CM000671.1:g.95481755G>A	GRCh37
NC_000009.10:g.94521576G>A	NCBI36
NG_033908.1:g.50329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1172C>T MANE Select	ENSP00000349351.6:p.Thr391Ile
ENST00000356884.10:c.1172C>T	ENSP00000349351.6:p.Thr391Ile
ENST00000375512.3:c.1172C>T	ENSP00000364662.3:p.Thr391Ile
NM_001003800.1:c.1172C>T	NP_001003800.1:p.Thr391Ile
NM_015250.3:c.1172C>T	NP_056065.1:p.Thr391Ile
XM_017014551.1:c.1253C>T	XP_016870040.1:p.Thr418Ile
NM_001003800.2:c.1172C>T MANE Select	NP_001003800.1:p.Thr391Ile
NM_015250.4:c.1172C>T	NP_056065.1:p.Thr391Ile