Canonical Allele Identifier: CA768460636

Gene: CYP1B1 RMDN2

Linked Data

• dbSNP Id: rs1297268263
• gnomAD v3: 2-38068779-T-C
• gnomAD v4: 2-38068779-T-C
• MyVariant Identifiers: chr2:g.38295922T>C (hg19) ; chr2:g.38068779T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38068779T>C , CM000664.2:g.38068779T>C	GRCh38
NC_000002.11:g.38295922T>C , CM000664.1:g.38295922T>C	GRCh37
NC_000002.10:g.38149426T>C	NCBI36
NG_008386.2:g.12323A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.*1943A>G (CYP1B1)	ENSP00000478839.2:n.*1943A>G
ENST00000610745.5:c.*1943A>G (CYP1B1) MANE Select	ENSP00000478561.1:n.*1943A>G
ENST00000491456.1:n.184+399A>G (CYP1B1)
ENST00000610745.4:c.*1943A>G (CYP1B1)	ENSP00000478561.1:n.*1943A>G
NM_000104.3:c.*1943A>G (CYP1B1)	NP_000095.2:n.*1943A>G
XR_939668.1:n.3779T>C (RMDN2)
XM_011532615.3:c.*1825T>C (RMDN2)	XP_011530917.2:n.*1825T>C
XM_017003475.2:c.*1789T>C (RMDN2)	XP_016858964.1:n.*1789T>C
XR_939668.3:n.3910T>C (RMDN2)
NM_000104.4:c.*1943A>G (CYP1B1) MANE Select	NP_000095.2:n.*1943A>G