Canonical Allele Identifier: CA349342643

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664995T>G (hg19) ; chr2:g.174800267T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800267T>G , CM000664.2:g.174800267T>G	GRCh38
NC_000002.11:g.175664995T>G , CM000664.1:g.175664995T>G	GRCh37
NC_000002.10:g.175373241T>G	NCBI36
NG_012642.1:g.210176A>C
NG_012642.2:g.210176A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.854A>C	ENSP00000295497.7:p.Glu285Ala
ENST00000295497.12:c.854A>C	ENSP00000295497.7:p.Glu285Ala
ENST00000409089.7:c.605A>C	ENSP00000386322.3:p.Glu202Ala
ENST00000409900.9:c.1229A>C MANE Select	ENSP00000386741.4:p.Glu410Ala
ENST00000413882.6:c.683A>C	ENSP00000410496.2:p.Glu228Ala
ENST00000443238.6:c.707A>C	ENSP00000409798.2:p.Glu236Ala
ENST00000488080.6:n.872A>C
ENST00000650731.1:c.554A>C	ENSP00000499146.1:p.Glu185Ala
ENST00000650938.1:c.615A>C
ENST00000651246.1:c.821A>C	ENSP00000498484.1:p.Glu274Ala
ENST00000651501.1:c.*676A>C	ENSP00000498894.1:n.*676A>C
ENST00000651717.1:c.*505A>C	ENSP00000499124.1:n.*505A>C
ENST00000652036.1:c.905A>C	ENSP00000499139.1:p.Glu302Ala
ENST00000295497.11:c.854A>C	ENSP00000295497.7:p.Glu285Ala
ENST00000409156.7:c.1151A>C	ENSP00000386470.3:p.Glu384Ala
ENST00000409597.5:c.677A>C	ENSP00000386469.1:p.Glu226Ala
ENST00000409900.7:c.1229A>C	ENSP00000386741.3:p.Glu410Ala
ENST00000488080.5:n.1080A>C
ENST00000492964.1:n.372A>C
NM_001025201.3:c.1151A>C	NP_001020372.2:p.Glu384Ala
NM_001206602.1:c.854A>C	NP_001193531.1:p.Glu285Ala
NM_001822.5:c.1229A>C	NP_001813.1:p.Glu410Ala
NR_038133.1:n.1095A>C
NM_001025201.4:c.1151A>C	NP_001020372.2:p.Glu384Ala
NM_001206602.2:c.854A>C	NP_001193531.1:p.Glu285Ala
NM_001371513.1:c.1229A>C	NP_001358442.1:p.Glu410Ala
NM_001371514.1:c.1280A>C	NP_001358443.1:p.Glu427Ala
NM_001822.7:c.1229A>C MANE Select	NP_001813.1:p.Glu410Ala
NR_038133.2:n.1097A>C