Canonical Allele Identifier: CA2830544362

Gene: ESYT2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.158788233A>G , CM000669.2:g.158788233A>G	GRCh38
NC_000007.13:g.158580924A>G , CM000669.1:g.158580924A>G	GRCh37
NC_000007.12:g.158273685A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251527.10:c.657+112T>C	ENSP00000251527.6:n.657+112T>C
ENST00000275418.13:c.657+112T>C MANE Select	ENSP00000275418.8:n.657+112T>C
ENST00000652148.1:c.801+112T>C	ENSP00000499020.1:n.801+112T>C
ENST00000251527.9:c.801+112T>C	ENSP00000251527.5:n.801+112T>C
ENST00000275418.11:c.711+112T>C	ENSP00000275418.7:n.711+112T>C
ENST00000483958.5:n.426+112T>C
ENST00000613624.1:c.885+112T>C	ENSP00000481296.1:n.885+112T>C
NM_020728.2:c.801+112T>C	NP_065779.1:n.801+112T>C
XM_024446845.1:c.801+112T>C	XP_024302613.1:n.801+112T>C
XM_024446846.1:c.801+112T>C	XP_024302614.1:n.801+112T>C
XM_024446847.1:c.273+112T>C	XP_024302615.1:n.273+112T>C
XM_024446848.1:c.150+112T>C	XP_024302616.1:n.150+112T>C
XM_024446849.1:c.801+112T>C	XP_024302617.1:n.801+112T>C
XR_002956471.1:n.816+112T>C
NM_001367773.1:c.657+112T>C MANE Select	NP_001354702.1:n.657+112T>C
NM_020728.3:c.657+112T>C	NP_065779.2:n.657+112T>C