Canonical Allele Identifier: CA174252247

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27775871C>T , CM000670.2:g.27775871C>T	GRCh38
NC_000008.10:g.27633388C>T , CM000670.1:g.27633388C>T	GRCh37
NC_000008.9:g.27689307C>T	NCBI36
NG_008117.1:g.6331C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.53+304C>T MANE Select	NP_001017420.1:n.53+304C>T
ENST00000305188.13:c.53+304C>T MANE Select	ENSP00000306999.8:n.53+304C>T
NM_001017420.2:c.53+304C>T	NP_001017420.1:n.53+304C>T
ENST00000305188.12:c.53+304C>T	ENSP00000306999.8:n.53+304C>T
ENST00000519637.1:c.53+304C>T	ENSP00000428027.1:n.53+304C>T
ENST00000522378.5:c.53+304C>T	ENSP00000428928.1:n.53+304C>T
ENST00000523566.5:c.53+304C>T	ENSP00000428435.1:n.53+304C>T
ENST00000524293.1:n.71+304C>T
XM_011544421.1:c.53+304C>T	XP_011542723.1:n.53+304C>T
XM_011544421.2:c.53+304C>T	XP_011542723.1:n.53+304C>T
XM_011544422.1:c.53+304C>T	XP_011542724.1:n.53+304C>T
XM_011544422.2:c.53+304C>T	XP_011542724.1:n.53+304C>T
XR_949378.1:n.137+304C>T
XR_949378.3:n.137+304C>T
XR_949379.1:n.137+304C>T