Canonical Allele Identifier: CA2688873247

Gene: CYP11B2 GML

Linked Data

• gnomAD v4: 8-142914204-A-AGTGCCTGGGAGGCAGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914205_142914222dup , CM000670.2:g.142914205_142914222dup	GRCh38
NC_000008.10:g.143995621_143995638dup , CM000670.1:g.143995621_143995638dup	GRCh37
NC_000008.9:g.143992623_143992640dup	NCBI36
NG_008374.1:g.8622_8639dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.954+42_954+59dup (CYP11B2) MANE Select	ENSP00000325822.2:n.954+42_954+59dup
ENST00000522728.5:c.264+160_264+177dup (GML)	ENSP00000430799.1:n.264+160_264+177dup
NM_000498.3:c.954+42_954+59dup (CYP11B2) MANE Select	NP_000489.3:n.954+42_954+59dup
XM_011516877.1:c.1032+42_1032+59dup (CYP11B2)	XP_011515179.1:n.1032+42_1032+59dup
XM_011516878.1:c.1032+42_1032+59dup (CYP11B2)	XP_011515180.1:n.1032+42_1032+59dup
XM_011516879.1:c.954+42_954+59dup (CYP11B2)	XP_011515181.1:n.954+42_954+59dup
XM_011516970.1:c.297+160_297+177dup (GML)	XP_011515272.1:n.297+160_297+177dup