Canonical Allele Identifier: CA370823040

Gene: ESCO2

Linked Data

• MyVariant Identifiers: chr8:g.27645403T>G (hg19) ; chr8:g.27787886T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787886T>G , CM000670.2:g.27787886T>G	GRCh38
NC_000008.10:g.27645403T>G , CM000670.1:g.27645403T>G	GRCh37
NC_000008.9:g.27701322T>G	NCBI36
NG_008117.1:g.18346T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1015T>G MANE Select	ENSP00000306999.8:p.Ser339Ala
ENST00000305188.12:c.1015T>G	ENSP00000306999.8:p.Ser339Ala
ENST00000518262.5:c.129T>G
ENST00000522378.5:c.863T>G	ENSP00000428928.1:p.Ile288Ser
NM_001017420.2:c.1015T>G	NP_001017420.1:p.Ser339Ala
XM_011544421.1:c.1015T>G	XP_011542723.1:p.Ser339Ala
XM_011544422.1:c.1015T>G	XP_011542724.1:p.Ser339Ala
XR_949378.1:n.1099T>G
XR_949379.1:n.1099T>G
XM_011544421.2:c.1015T>G	XP_011542723.1:p.Ser339Ala
XM_011544422.2:c.1015T>G	XP_011542724.1:p.Ser339Ala
XR_949378.3:n.1099T>G
NM_001017420.3:c.1015T>G MANE Select	NP_001017420.1:p.Ser339Ala