Canonical Allele Identifier: CA372389111

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs1452222803
• gnomAD v2: 8-143996135-C-T
• gnomAD v4: 8-142914719-C-T
• MyVariant Identifiers: chr8:g.143996135C>T (hg19) ; chr8:g.142914719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914719C>T , CM000670.2:g.142914719C>T	GRCh38
NC_000008.10:g.143996135C>T , CM000670.1:g.143996135C>T	GRCh37
NC_000008.9:g.143993137C>T	NCBI36
NG_008374.1:g.8125G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.785G>A (CYP11B2) MANE Select	ENSP00000325822.2:p.Cys262Tyr
ENST00000522728.5:c.264+674C>T (GML)	ENSP00000430799.1:n.264+674C>T
NM_000498.3:c.785G>A (CYP11B2) MANE Select	NP_000489.3:p.Cys262Tyr
XM_011516877.1:c.863G>A (CYP11B2)	XP_011515179.1:p.Cys288Tyr
XM_011516878.1:c.863G>A (CYP11B2)	XP_011515180.1:p.Cys288Tyr
XM_011516879.1:c.785G>A (CYP11B2)	XP_011515181.1:p.Cys262Tyr
XM_011516970.1:c.297+674C>T (GML)	XP_011515272.1:n.297+674C>T