Canonical Allele Identifier: CA2686706228

Gene: ESCO2

Linked Data

• gnomAD v4: 8-27787871-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787871C>T , CM000670.2:g.27787871C>T	GRCh38
NC_000008.10:g.27645388C>T , CM000670.1:g.27645388C>T	GRCh37
NC_000008.9:g.27701307C>T	NCBI36
NG_008117.1:g.18331C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1014-14C>T MANE Select	ENSP00000306999.8:n.1014-14C>T
ENST00000305188.12:c.1014-14C>T	ENSP00000306999.8:n.1014-14C>T
ENST00000518262.5:c.128-14C>T
ENST00000522378.5:c.862-14C>T	ENSP00000428928.1:n.862-14C>T
NM_001017420.2:c.1014-14C>T	NP_001017420.1:n.1014-14C>T
XM_011544421.1:c.1014-14C>T	XP_011542723.1:n.1014-14C>T
XM_011544422.1:c.1014-14C>T	XP_011542724.1:n.1014-14C>T
XR_949378.1:n.1098-14C>T
XR_949379.1:n.1098-14C>T
XM_011544421.2:c.1014-14C>T	XP_011542723.1:n.1014-14C>T
XM_011544422.2:c.1014-14C>T	XP_011542724.1:n.1014-14C>T
XR_949378.3:n.1098-14C>T
NM_001017420.3:c.1014-14C>T MANE Select	NP_001017420.1:n.1014-14C>T