Canonical Allele Identifier: CA349342556

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664984T>C (hg19) ; chr2:g.174800256T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800256T>C , CM000664.2:g.174800256T>C	GRCh38
NC_000002.11:g.175664984T>C , CM000664.1:g.175664984T>C	GRCh37
NC_000002.10:g.175373230T>C	NCBI36
NG_012642.1:g.210187A>G
NG_012642.2:g.210187A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.865A>G	ENSP00000295497.7:p.Asn289Asp
ENST00000295497.12:c.865A>G	ENSP00000295497.7:p.Asn289Asp
ENST00000409900.9:c.1240A>G MANE Select	ENSP00000386741.4:p.Asn414Asp
ENST00000413882.6:c.694A>G	ENSP00000410496.2:p.Asn232Asp
ENST00000443238.6:c.718A>G	ENSP00000409798.2:p.Asn240Asp
ENST00000488080.6:n.883A>G
ENST00000650731.1:c.565A>G	ENSP00000499146.1:p.Asn189Asp
ENST00000650938.1:c.626A>G
ENST00000651246.1:c.832A>G	ENSP00000498484.1:p.Asn278Asp
ENST00000651501.1:c.*687A>G	ENSP00000498894.1:n.*687A>G
ENST00000651717.1:c.*516A>G	ENSP00000499124.1:n.*516A>G
ENST00000652036.1:c.916A>G	ENSP00000499139.1:p.Asn306Asp
ENST00000295497.11:c.865A>G	ENSP00000295497.7:p.Asn289Asp
ENST00000409156.7:c.1162A>G	ENSP00000386470.3:p.Asn388Asp
ENST00000409597.5:c.688A>G	ENSP00000386469.1:p.Asn230Asp
ENST00000409900.7:c.1240A>G	ENSP00000386741.3:p.Asn414Asp
ENST00000488080.5:n.1091A>G
ENST00000492964.1:n.383A>G
NM_001025201.3:c.1162A>G	NP_001020372.2:p.Asn388Asp
NM_001206602.1:c.865A>G	NP_001193531.1:p.Asn289Asp
NM_001822.5:c.1240A>G	NP_001813.1:p.Asn414Asp
NR_038133.1:n.1106A>G
NM_001025201.4:c.1162A>G	NP_001020372.2:p.Asn388Asp
NM_001206602.2:c.865A>G	NP_001193531.1:p.Asn289Asp
NM_001371513.1:c.1240A>G	NP_001358442.1:p.Asn414Asp
NM_001371514.1:c.1291A>G	NP_001358443.1:p.Asn431Asp
NM_001822.7:c.1240A>G MANE Select	NP_001813.1:p.Asn414Asp
NR_038133.2:n.1108A>G