Canonical Allele Identifier: CA430016784

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664883C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800155C>G , CM000664.2:g.174800155C>G	GRCh38
NC_000002.11:g.175664883C>G , CM000664.1:g.175664883C>G	GRCh37
NC_000002.10:g.175373129C>G	NCBI36
NG_012642.1:g.210288G>C
NG_012642.2:g.210288G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.966G>C	ENSP00000295497.7:p.Val322=
ENST00000295497.12:c.966G>C	ENSP00000295497.7:p.Val322=
ENST00000409900.9:c.1341G>C MANE Select	ENSP00000386741.4:p.Val447=
ENST00000413882.6:c.795G>C	ENSP00000410496.2:p.Val265=
ENST00000443238.6:c.819G>C	ENSP00000409798.2:p.Val273=
ENST00000488080.6:n.984G>C
ENST00000650731.1:c.666G>C	ENSP00000499146.1:p.Val222=
ENST00000650938.1:c.727G>C
ENST00000651246.1:c.933G>C	ENSP00000498484.1:p.Val311=
ENST00000651501.1:c.*788G>C	ENSP00000498894.1:n.*788G>C
ENST00000651717.1:c.*617G>C	ENSP00000499124.1:n.*617G>C
ENST00000652036.1:c.1017G>C	ENSP00000499139.1:p.Val339=
ENST00000295497.11:c.966G>C	ENSP00000295497.7:p.Val322=
ENST00000409156.7:c.1263G>C	ENSP00000386470.3:p.Val421=
ENST00000409597.5:c.789G>C	ENSP00000386469.1:p.Val263=
ENST00000409900.7:c.1341G>C	ENSP00000386741.3:p.Val447=
ENST00000488080.5:n.1192G>C
ENST00000492964.1:n.484G>C
NM_001025201.3:c.1263G>C	NP_001020372.2:p.Val421=
NM_001206602.1:c.966G>C	NP_001193531.1:p.Val322=
NM_001822.5:c.1341G>C	NP_001813.1:p.Val447=
NR_038133.1:n.1207G>C
NM_001025201.4:c.1263G>C	NP_001020372.2:p.Val421=
NM_001206602.2:c.966G>C	NP_001193531.1:p.Val322=
NM_001371513.1:c.1341G>C	NP_001358442.1:p.Val447=
NM_001371514.1:c.1392G>C	NP_001358443.1:p.Val464=
NM_001822.7:c.1341G>C MANE Select	NP_001813.1:p.Val447=
NR_038133.2:n.1209G>C