Canonical Allele Identifier: CA341781
Gene: ESCO2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27788840A>G , CM000670.2:g.27788840A>G GRCh38
NC_000008.10:g.27646357A>G , CM000670.1:g.27646357A>G GRCh37
NC_000008.9:g.27702276A>G NCBI36
NG_008117.1:g.19300A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305188.13:c.1132-7A>G MANE Select ENSP00000306999.8:n.1132-7A>G
ENST00000305188.12:c.1132-7A>G ENSP00000306999.8:n.1132-7A>G
ENST00000397418.4:c.76-7A>G ENSP00000380563.2:n.76-7A>G
ENST00000518262.5:c.246-7A>G
ENST00000522378.5:c.*107-7A>G ENSP00000428928.1:n.*107-7A>G
NM_001017420.2:c.1132-7A>G NP_001017420.1:n.1132-7A>G
XM_011544421.1:c.1132-7A>G XP_011542723.1:n.1132-7A>G
XM_011544422.1:c.1132-7A>G XP_011542724.1:n.1132-7A>G
XR_949378.1:n.1216-7A>G
XR_949379.1:n.1216-7A>G
XM_011544421.2:c.1132-7A>G XP_011542723.1:n.1132-7A>G
XM_011544422.2:c.1132-7A>G XP_011542724.1:n.1132-7A>G
XR_949378.3:n.1216-7A>G
NM_001017420.3:c.1132-7A>G MANE Select NP_001017420.1:n.1132-7A>G