Canonical Allele Identifier: CA392658660

Gene: ICE2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.60448032G>T , CM000677.2:g.60448032G>T	GRCh38
NC_000015.9:g.60740231G>T , CM000677.1:g.60740231G>T	GRCh37
NC_000015.8:g.58527523G>T	NCBI36
NG_054881.1:g.36129C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024611.6:c.2233C>A MANE Select	NP_078887.2:p.Arg745Ser
ENST00000261520.9:c.2233C>A MANE Select	ENSP00000261520.4:p.Arg745Ser
NM_001018089.2:c.1822C>A	NP_001018099.1:p.Arg608Ser
NM_001018089.3:c.1822C>A	NP_001018099.1:p.Arg608Ser
NM_024611.5:c.2233C>A	NP_078887.2:p.Arg745Ser
NR_147171.1:n.2323C>A
NR_147171.2:n.2305C>A
ENST00000261520.8:c.2233C>A	ENSP00000261520.4:p.Arg745Ser
ENST00000558181.5:c.*1851C>A	ENSP00000453593.1:n.*1851C>A
ENST00000561144.1:n.218C>A
ENST00000561328.1:n.1175+816C>A
XM_005254661.1:c.2233C>A	XP_005254718.1:p.Arg745Ser
XM_005254661.2:c.2233C>A	XP_005254718.1:p.Arg745Ser
XM_005254662.1:c.1822C>A	XP_005254719.1:p.Arg608Ser
XM_005254662.2:c.1822C>A	XP_005254719.1:p.Arg608Ser
XM_011522009.1:c.2233C>A	XP_011520311.1:p.Arg745Ser
XM_011522009.2:c.2233C>A	XP_011520311.1:p.Arg745Ser
XM_011522010.1:c.1822C>A	XP_011520312.1:p.Arg608Ser
XM_011522010.2:c.1822C>A	XP_011520312.1:p.Arg608Ser
XM_011522011.1:c.1822C>A	XP_011520313.1:p.Arg608Ser
XM_011522011.2:c.1822C>A	XP_011520313.1:p.Arg608Ser
XM_017022569.2:c.2233C>A	XP_016878058.1:p.Arg745Ser
XM_024450051.1:c.1822C>A	XP_024305819.1:p.Arg608Ser
XR_001751386.2:n.2449C>A
XR_931902.1:n.2449C>A
XR_931902.3:n.2449C>A
XR_931903.1:n.2449C>A
XR_931903.3:n.2449C>A
XR_931904.1:n.2449C>A