Canonical Allele Identifier: CA349342262

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664932T>G (hg19) ; chr2:g.174800204T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800204T>G , CM000664.2:g.174800204T>G	GRCh38
NC_000002.11:g.175664932T>G , CM000664.1:g.175664932T>G	GRCh37
NC_000002.10:g.175373178T>G	NCBI36
NG_012642.1:g.210239A>C
NG_012642.2:g.210239A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.917A>C	ENSP00000295497.7:p.Glu306Ala
ENST00000295497.12:c.917A>C	ENSP00000295497.7:p.Glu306Ala
ENST00000409900.9:c.1292A>C MANE Select	ENSP00000386741.4:p.Glu431Ala
ENST00000413882.6:c.746A>C	ENSP00000410496.2:p.Glu249Ala
ENST00000443238.6:c.770A>C	ENSP00000409798.2:p.Glu257Ala
ENST00000488080.6:n.935A>C
ENST00000650731.1:c.617A>C	ENSP00000499146.1:p.Glu206Ala
ENST00000650938.1:c.678A>C
ENST00000651246.1:c.884A>C	ENSP00000498484.1:p.Glu295Ala
ENST00000651501.1:c.*739A>C	ENSP00000498894.1:n.*739A>C
ENST00000651717.1:c.*568A>C	ENSP00000499124.1:n.*568A>C
ENST00000652036.1:c.968A>C	ENSP00000499139.1:p.Glu323Ala
ENST00000295497.11:c.917A>C	ENSP00000295497.7:p.Glu306Ala
ENST00000409156.7:c.1214A>C	ENSP00000386470.3:p.Glu405Ala
ENST00000409597.5:c.740A>C	ENSP00000386469.1:p.Glu247Ala
ENST00000409900.7:c.1292A>C	ENSP00000386741.3:p.Glu431Ala
ENST00000488080.5:n.1143A>C
ENST00000492964.1:n.435A>C
NM_001025201.3:c.1214A>C	NP_001020372.2:p.Glu405Ala
NM_001206602.1:c.917A>C	NP_001193531.1:p.Glu306Ala
NM_001822.5:c.1292A>C	NP_001813.1:p.Glu431Ala
NR_038133.1:n.1158A>C
NM_001025201.4:c.1214A>C	NP_001020372.2:p.Glu405Ala
NM_001206602.2:c.917A>C	NP_001193531.1:p.Glu306Ala
NM_001371513.1:c.1292A>C	NP_001358442.1:p.Glu431Ala
NM_001371514.1:c.1343A>C	NP_001358443.1:p.Glu448Ala
NM_001822.7:c.1292A>C MANE Select	NP_001813.1:p.Glu431Ala
NR_038133.2:n.1160A>C