Canonical Allele Identifier: CA372389227
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

gnomAD v4: 8-142914749-A-G
MyVariant Identifiers: chr8:g.143996165A>G (hg19) chr8:g.142914749A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914749A>G , CM000670.2:g.142914749A>G GRCh38
NC_000008.10:g.143996165A>G , CM000670.1:g.143996165A>G GRCh37
NC_000008.9:g.143993167A>G NCBI36
NG_008374.1:g.8095T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.755T>C (CYP11B2) MANE Select ENSP00000325822.2:p.Val252Ala
ENST00000522728.5:c.264+704A>G (GML) ENSP00000430799.1:n.264+704A>G
NM_000498.3:c.755T>C (CYP11B2) MANE Select NP_000489.3:p.Val252Ala
XM_011516877.1:c.833T>C (CYP11B2) XP_011515179.1:p.Val278Ala
XM_011516878.1:c.833T>C (CYP11B2) XP_011515180.1:p.Val278Ala
XM_011516879.1:c.755T>C (CYP11B2) XP_011515181.1:p.Val252Ala
XM_011516970.1:c.297+704A>G (GML) XP_011515272.1:n.297+704A>G
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