Canonical Allele Identifier: CA038927

Gene: CYP11B2 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.[142912850A>G;142915047T>G] , CM000670.2:g.[142912850A>G;142915047T>G]	GRCh38
NC_000008.10:g.[143994266A>G;143996463T>G] , CM000670.1:g.[143994266A>G;143996463T>G]	GRCh37
NC_000008.9:g.[143991268A>G;143993465T>G]	NCBI36
NG_008374.1:g.[7797A>C;9994T>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.[594A>C;1157T>C] (CYP11B2) MANE Select	ENSP00000325822.2:p.[Glu198Asp;Val386Ala]
ENST00000522728.5:c.[182-1113A>G;264+1002T>G] (GML)	ENSP00000430799.1:n.[182-1113A>G;264+1002T>G]
NM_000498.3:c.[594A>C;1157T>C] (CYP11B2) MANE Select	NP_000489.3:p.[Glu198Asp;Val386Ala]
XM_011516877.1:c.[672A>C;1304T>C] (CYP11B2)	XP_011515179.1:p.[Glu224Asp;Val435Ala]
XM_011516878.1:c.[672A>C;1235T>C] (CYP11B2)	XP_011515180.1:p.[Glu224Asp;Val412Ala]
XM_011516879.1:c.[594A>C;1226T>C] (CYP11B2)	XP_011515181.1:p.[Glu198Asp;Val409Ala]
XM_011516970.1:c.[215-1113A>G;297+1002T>G] (GML)	XP_011515272.1:n.[215-1113A>G;297+1002T>G]