Canonical Allele Identifier: CA10613773

Gene: CYP1B1 RMDN2

Linked Data

• ClinVar Variation Id: 335935
• ClinVar RCV Id: RCV000297225 ; RCV000390423
• dbSNP Id: rs9341262
• gnomAD v2: 2-38296884-A-G
• gnomAD v3: 2-38069741-A-G
• gnomAD v4: 2-38069741-A-G
• MyVariant Identifiers: chr2:g.38296884A>G (hg19) ; chr2:g.38069741A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38069741A>G , CM000664.2:g.38069741A>G	GRCh38
NC_000002.11:g.38296884A>G , CM000664.1:g.38296884A>G	GRCh37
NC_000002.10:g.38150388A>G	NCBI36
NG_008386.2:g.11361T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.*981T>C (CYP1B1)	ENSP00000478839.2:n.*981T>C
ENST00000610745.5:c.*981T>C (CYP1B1) MANE Select	ENSP00000478561.1:n.*981T>C
ENST00000491456.1:n.89-468T>C (CYP1B1)
ENST00000610745.4:c.*981T>C (CYP1B1)	ENSP00000478561.1:n.*981T>C
NM_000104.3:c.*981T>C (CYP1B1)	NP_000095.2:n.*981T>C
XR_939668.1:n.4741A>G (RMDN2)
NM_000104.4:c.*981T>C (CYP1B1) MANE Select	NP_000095.2:n.*981T>C