Canonical Allele Identifier: CA1120128555

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs1817552732
• gnomAD v3: 8-142912477-G-GCAGGTCCCGCCTCTGCTGCC
• gnomAD v4: 8-142912477-G-GCAGGTCCCGCCTCTGCTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142912489_142912508dup , CM000670.2:g.142912489_142912508dup	GRCh38
NC_000008.10:g.143993905_143993924dup , CM000670.1:g.143993905_143993924dup	GRCh37
NC_000008.9:g.143990907_143990926dup	NCBI36
NG_008374.1:g.10347_10366dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000323110.2:c.1398+33_1398+52dup (CYP11B2) MANE Select	ENSP00000325822.2:n.1398+33_1398+52dup
ENST00000522728.5:c.182-1474_182-1455dup (GML)	ENSP00000430799.1:n.182-1474_182-1455dup
NM_000498.3:c.1398+33_1398+52dup (CYP11B2) MANE Select	NP_000489.3:n.1398+33_1398+52dup
XM_011516877.1:c.1545+33_1545+52dup (CYP11B2)	XP_011515179.1:n.1545+33_1545+52dup
XM_011516878.1:c.1476+33_1476+52dup (CYP11B2)	XP_011515180.1:n.1476+33_1476+52dup
XM_011516879.1:c.1467+33_1467+52dup (CYP11B2)	XP_011515181.1:n.1467+33_1467+52dup
XM_011516970.1:c.215-1474_215-1455dup (GML)	XP_011515272.1:n.215-1474_215-1455dup