Canonical Allele Identifier: CA4692073

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27776877A>G , CM000670.2:g.27776877A>G	GRCh38
NC_000008.10:g.27634394A>G , CM000670.1:g.27634394A>G	GRCh37
NC_000008.9:g.27690313A>G	NCBI36
NG_008117.1:g.7337A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.569A>G MANE Select	NP_001017420.1:p.Asn190Ser
ENST00000305188.13:c.569A>G MANE Select	ENSP00000306999.8:p.Asn190Ser
NM_001017420.2:c.569A>G	NP_001017420.1:p.Asn190Ser
ENST00000305188.12:c.569A>G	ENSP00000306999.8:p.Asn190Ser
ENST00000522378.5:c.569A>G	ENSP00000428928.1:p.Asn190Ser
ENST00000523910.1:n.368A>G
ENST00000524293.1:n.587A>G
XM_011544421.1:c.569A>G	XP_011542723.1:p.Asn190Ser
XM_011544421.2:c.569A>G	XP_011542723.1:p.Asn190Ser
XM_011544422.1:c.569A>G	XP_011542724.1:p.Asn190Ser
XM_011544422.2:c.569A>G	XP_011542724.1:p.Asn190Ser
XR_949378.1:n.653A>G
XR_949378.3:n.653A>G
XR_949379.1:n.653A>G