Canonical Allele Identifier: CA848694637

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs1294347231
• gnomAD v3: 8-142912365-A-C
• gnomAD v4: 8-142912365-A-C
• MyVariant Identifiers: chr8:g.143993781A>C (hg19) ; chr8:g.142912365A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142912365A>C , CM000670.2:g.142912365A>C	GRCh38
NC_000008.10:g.143993781A>C , CM000670.1:g.143993781A>C	GRCh37
NC_000008.9:g.143990783A>C	NCBI36
NG_008374.1:g.10479T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.1398+165T>G (CYP11B2) MANE Select	ENSP00000325822.2:n.1398+165T>G
ENST00000522728.5:c.182-1598A>C (GML)	ENSP00000430799.1:n.182-1598A>C
NM_000498.3:c.1398+165T>G (CYP11B2) MANE Select	NP_000489.3:n.1398+165T>G
XM_011516877.1:c.1545+165T>G (CYP11B2)	XP_011515179.1:n.1545+165T>G
XM_011516878.1:c.1476+165T>G (CYP11B2)	XP_011515180.1:n.1476+165T>G
XM_011516879.1:c.1467+165T>G (CYP11B2)	XP_011515181.1:n.1467+165T>G
XM_011516970.1:c.215-1598A>C (GML)	XP_011515272.1:n.215-1598A>C