Canonical Allele Identifier: CA374036212

Gene: BICD2

Linked Data

• dbSNP Id: rs2131500268
• gnomAD v3: 9-92718925-T-A
• gnomAD v4: 9-92718925-T-A
• MyVariant Identifiers: chr9:g.95481207T>A (hg19) ; chr9:g.92718925T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718925T>A , CM000671.2:g.92718925T>A	GRCh38
NC_000009.11:g.95481207T>A , CM000671.1:g.95481207T>A	GRCh37
NC_000009.10:g.94521028T>A	NCBI36
NG_033908.1:g.50877A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1720A>T MANE Select	ENSP00000349351.6:p.Ser574Cys
ENST00000356884.10:c.1720A>T	ENSP00000349351.6:p.Ser574Cys
ENST00000375512.3:c.1720A>T	ENSP00000364662.3:p.Ser574Cys
NM_001003800.1:c.1720A>T	NP_001003800.1:p.Ser574Cys
NM_015250.3:c.1720A>T	NP_056065.1:p.Ser574Cys
XM_017014551.1:c.1801A>T	XP_016870040.1:p.Ser601Cys
NM_001003800.2:c.1720A>T MANE Select	NP_001003800.1:p.Ser574Cys
NM_015250.4:c.1720A>T	NP_056065.1:p.Ser574Cys