Canonical Allele Identifier: CA363505271

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007586G>C (hg19) ; chr6:g.32039809G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039809G>C , CM000668.2:g.32039809G>C	GRCh38
NC_000006.11:g.32007586G>C , CM000668.1:g.32007586G>C	GRCh37
NC_000006.10:g.32115565G>C	NCBI36
NG_007941.2:g.6502G>C
NG_008337.2:g.74566C>G
NG_007941.3:g.6505G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.712G>C MANE Select	ENSP00000496625.1:p.Val238Leu
ENST00000418967.6:c.712G>C	ENSP00000408860.2:p.Val238Leu
ENST00000435122.3:c.622G>C	ENSP00000415043.2:p.Val208Leu
ENST00000462278.1:n.401G>C
ENST00000466779.5:c.*404G>C	ENSP00000417321.1:n.*404G>C
ENST00000466879.5:n.763G>C
ENST00000479074.5:n.770G>C
ENST00000479730.5:n.828G>C
ENST00000483041.5:n.881G>C
ENST00000486063.5:n.892G>C
NM_000500.7:c.712G>C	NP_000491.4:p.Val238Leu
NM_001128590.3:c.622G>C	NP_001122062.3:p.Val208Leu
XM_011514314.1:c.307G>C	XP_011512616.1:p.Val103Leu
NM_000500.9:c.712G>C MANE Select	NP_000491.4:p.Val238Leu
NM_001368143.1:c.307G>C	NP_001355072.1:p.Val103Leu
NM_001368144.1:c.307G>C	NP_001355073.1:p.Val103Leu
NM_001128590.4:c.622G>C	NP_001122062.3:p.Val208Leu
NM_001368143.2:c.307G>C	NP_001355072.1:p.Val103Leu
NM_001368144.2:c.307G>C	NP_001355073.1:p.Val103Leu