Canonical Allele Identifier: CA3732518

Gene: CYP21A2

Linked Data

• dbSNP Id: rs759764168
• ExAC: 6:32007731 T / C
• gnomAD v2: 6-32007731-T-C
• gnomAD v4: 6-32039954-T-C
• MyVariant Identifiers: chr6:g.32007731T>C (hg19) ; chr6:g.32039954T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039954T>C , CM000668.2:g.32039954T>C	GRCh38
NC_000006.11:g.32007731T>C , CM000668.1:g.32007731T>C	GRCh37
NC_000006.10:g.32115710T>C	NCBI36
NG_007941.2:g.6647T>C
NG_008337.2:g.74421A>G
NG_007941.3:g.6650T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.739-51T>C MANE Select	ENSP00000496625.1:n.739-51T>C
ENST00000418967.6:c.739-51T>C	ENSP00000408860.2:n.739-51T>C
ENST00000435122.3:c.649-51T>C	ENSP00000415043.2:n.649-51T>C
ENST00000462278.1:n.546T>C
ENST00000479074.5:n.797-51T>C
ENST00000479730.5:n.855-51T>C
ENST00000483041.5:n.908-51T>C
ENST00000486063.5:n.918+119T>C
NM_000500.7:c.739-51T>C	NP_000491.4:n.739-51T>C
NM_001128590.3:c.649-51T>C	NP_001122062.3:n.649-51T>C
XM_011514314.1:c.334-51T>C	XP_011512616.1:n.334-51T>C
NM_000500.9:c.739-51T>C MANE Select	NP_000491.4:n.739-51T>C
NM_001368143.1:c.334-51T>C	NP_001355072.1:n.334-51T>C
NM_001368144.1:c.334-51T>C	NP_001355073.1:n.334-51T>C
NM_001128590.4:c.649-51T>C	NP_001122062.3:n.649-51T>C
NM_001368143.2:c.334-51T>C	NP_001355072.1:n.334-51T>C
NM_001368144.2:c.334-51T>C	NP_001355073.1:n.334-51T>C