Canonical Allele Identifier: CA349342651

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664996C>A (hg19) ; chr2:g.174800268C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800268C>A , CM000664.2:g.174800268C>A	GRCh38
NC_000002.11:g.175664996C>A , CM000664.1:g.175664996C>A	GRCh37
NC_000002.10:g.175373242C>A	NCBI36
NG_012642.1:g.210175G>T
NG_012642.2:g.210175G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.853G>T	ENSP00000295497.7:p.Glu285Ter
ENST00000295497.12:c.853G>T	ENSP00000295497.7:p.Glu285Ter
ENST00000409089.7:c.604G>T	ENSP00000386322.3:p.Glu202Ter
ENST00000409900.9:c.1228G>T MANE Select	ENSP00000386741.4:p.Glu410Ter
ENST00000413882.6:c.682G>T	ENSP00000410496.2:p.Glu228Ter
ENST00000443238.6:c.706G>T	ENSP00000409798.2:p.Glu236Ter
ENST00000488080.6:n.871G>T
ENST00000650731.1:c.553G>T	ENSP00000499146.1:p.Glu185Ter
ENST00000650938.1:c.614G>T
ENST00000651246.1:c.820G>T	ENSP00000498484.1:p.Glu274Ter
ENST00000651501.1:c.*675G>T	ENSP00000498894.1:n.*675G>T
ENST00000651717.1:c.*504G>T	ENSP00000499124.1:n.*504G>T
ENST00000652036.1:c.904G>T	ENSP00000499139.1:p.Glu302Ter
ENST00000295497.11:c.853G>T	ENSP00000295497.7:p.Glu285Ter
ENST00000409156.7:c.1150G>T	ENSP00000386470.3:p.Glu384Ter
ENST00000409597.5:c.676G>T	ENSP00000386469.1:p.Glu226Ter
ENST00000409900.7:c.1228G>T	ENSP00000386741.3:p.Glu410Ter
ENST00000488080.5:n.1079G>T
ENST00000492964.1:n.371G>T
NM_001025201.3:c.1150G>T	NP_001020372.2:p.Glu384Ter
NM_001206602.1:c.853G>T	NP_001193531.1:p.Glu285Ter
NM_001822.5:c.1228G>T	NP_001813.1:p.Glu410Ter
NR_038133.1:n.1094G>T
NM_001025201.4:c.1150G>T	NP_001020372.2:p.Glu384Ter
NM_001206602.2:c.853G>T	NP_001193531.1:p.Glu285Ter
NM_001371513.1:c.1228G>T	NP_001358442.1:p.Glu410Ter
NM_001371514.1:c.1279G>T	NP_001358443.1:p.Glu427Ter
NM_001822.7:c.1228G>T MANE Select	NP_001813.1:p.Glu410Ter
NR_038133.2:n.1096G>T