Canonical Allele Identifier: CA449729735

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1369155562
• gnomAD v2: 6-32007889-G-C
• gnomAD v3: 6-32040112-G-C
• gnomAD v4: 6-32040112-G-C
• MyVariant Identifiers: chr6:g.32007889G>C (hg19) ; chr6:g.32040112G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040112G>C , CM000668.2:g.32040112G>C	GRCh38
NC_000006.11:g.32007889G>C , CM000668.1:g.32007889G>C	GRCh37
NC_000006.10:g.32115868G>C	NCBI36
NG_007941.2:g.6805G>C
NG_008337.2:g.74263C>G
NG_007941.3:g.6808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.846G>C MANE Select	ENSP00000496625.1:p.Val282=
ENST00000418967.6:c.846G>C	ENSP00000408860.2:p.Val282=
ENST00000435122.3:c.756G>C	ENSP00000415043.2:p.Val252=
ENST00000479074.5:n.904G>C
ENST00000479730.5:n.962G>C
ENST00000483041.5:n.1015G>C
ENST00000486063.5:n.918+277G>C
NM_000500.7:c.846G>C	NP_000491.4:p.Val282=
NM_001128590.3:c.756G>C	NP_001122062.3:p.Val252=
XM_011514314.1:c.441G>C	XP_011512616.1:p.Val147=
NM_000500.9:c.846G>C MANE Select	NP_000491.4:p.Val282=
NM_001368143.1:c.441G>C	NP_001355072.1:p.Val147=
NM_001368144.1:c.441G>C	NP_001355073.1:p.Val147=
NM_001128590.4:c.756G>C	NP_001122062.3:p.Val252=
NM_001368143.2:c.441G>C	NP_001355072.1:p.Val147=
NM_001368144.2:c.441G>C	NP_001355073.1:p.Val147=