Canonical Allele Identifier: CA2739269024

Gene: CYP11B2 GML

Linked Data

• ClinVar Variation Id: 2828425
• ClinVar RCV Id: RCV003685981

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914245G>C , CM000670.2:g.142914245G>C	GRCh38
NC_000008.10:g.143995661G>C , CM000670.1:g.143995661G>C	GRCh37
NC_000008.9:g.143992663G>C	NCBI36
NG_008374.1:g.8599C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.954+19C>G (CYP11B2) MANE Select	ENSP00000325822.2:n.954+19C>G
ENST00000522728.5:c.264+200G>C (GML)	ENSP00000430799.1:n.264+200G>C
NM_000498.3:c.954+19C>G (CYP11B2) MANE Select	NP_000489.3:n.954+19C>G
XM_011516877.1:c.1032+19C>G (CYP11B2)	XP_011515179.1:n.1032+19C>G
XM_011516878.1:c.1032+19C>G (CYP11B2)	XP_011515180.1:n.1032+19C>G
XM_011516879.1:c.954+19C>G (CYP11B2)	XP_011515181.1:n.954+19C>G
XM_011516970.1:c.297+200G>C (GML)	XP_011515272.1:n.297+200G>C