Canonical Allele Identifier: CA349341820

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664844T>A (hg19) ; chr2:g.174800116T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800116T>A , CM000664.2:g.174800116T>A	GRCh38
NC_000002.11:g.175664844T>A , CM000664.1:g.175664844T>A	GRCh37
NC_000002.10:g.175373090T>A	NCBI36
NG_012642.1:g.210327A>T
NG_012642.2:g.210327A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.1005A>T	ENSP00000295497.7:p.Ter335Tyr
ENST00000295497.12:c.1005A>T	ENSP00000295497.7:p.Ter335Tyr
ENST00000409900.9:c.1380A>T MANE Select	ENSP00000386741.4:p.Ter460Tyr
ENST00000413882.6:c.834A>T	ENSP00000410496.2:p.Ter278Tyr
ENST00000443238.6:c.858A>T	ENSP00000409798.2:p.Ter286Tyr
ENST00000488080.6:n.1023A>T
ENST00000650731.1:c.705A>T	ENSP00000499146.1:p.Ter235Tyr
ENST00000650938.1:c.766A>T
ENST00000651246.1:c.972A>T	ENSP00000498484.1:p.Ter324Tyr
ENST00000651501.1:c.*827A>T	ENSP00000498894.1:n.*827A>T
ENST00000651717.1:c.*656A>T	ENSP00000499124.1:n.*656A>T
ENST00000652036.1:c.1056A>T	ENSP00000499139.1:p.Ter352Tyr
ENST00000295497.11:c.1005A>T	ENSP00000295497.7:p.Ter335Tyr
ENST00000409156.7:c.1302A>T	ENSP00000386470.3:p.Ter434Tyr
ENST00000409597.5:c.828A>T	ENSP00000386469.1:p.Ter276Tyr
ENST00000409900.7:c.1380A>T	ENSP00000386741.3:p.Ter460Tyr
ENST00000488080.5:n.1231A>T
ENST00000492964.1:n.523A>T
NM_001025201.3:c.1302A>T	NP_001020372.2:p.Ter434Tyr
NM_001206602.1:c.1005A>T	NP_001193531.1:p.Ter335Tyr
NM_001822.5:c.1380A>T	NP_001813.1:p.Ter460Tyr
NR_038133.1:n.1246A>T
NM_001025201.4:c.1302A>T	NP_001020372.2:p.Ter434Tyr
NM_001206602.2:c.1005A>T	NP_001193531.1:p.Ter335Tyr
NM_001371513.1:c.1380A>T	NP_001358442.1:p.Ter460Tyr
NM_001371514.1:c.1431A>T	NP_001358443.1:p.Ter477Tyr
NM_001822.7:c.1380A>T MANE Select	NP_001813.1:p.Ter460Tyr
NR_038133.2:n.1248A>T