Canonical Allele Identifier: CA10613778
Gene: CYP1B1 HGNC NCBI
RMDN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 335937
ClinVar RCV Id: RCV000319875 RCV000358364
dbSNP Id: rs4646433
gnomAD v2: 2-38296985-CT-C
gnomAD v3: 2-38069842-CT-C
gnomAD v4: 2-38069842-CT-C
MyVariant Identifiers: chr2:g.38296986del (hg19) chr2:g.38069843del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38069852del , CM000664.2:g.38069852del GRCh38
NC_000002.11:g.38296995del , CM000664.1:g.38296995del GRCh37
NC_000002.10:g.38150499del NCBI36
NG_008386.2:g.11259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.*879del (CYP1B1) ENSP00000478839.2:n.*879del
ENST00000610745.5:c.*879del (CYP1B1) MANE Select ENSP00000478561.1:n.*879del
ENST00000491456.1:n.89-570del (CYP1B1)
ENST00000610745.4:c.*879del (CYP1B1) ENSP00000478561.1:n.*879del
NM_000104.3:c.*879del (CYP1B1) NP_000095.2:n.*879del
XR_939668.1:n.4852del (RMDN2)
NM_000104.4:c.*879del (CYP1B1) MANE Select NP_000095.2:n.*879del
Search 100 bp 5'
Search 100 bp 3'