Canonical Allele Identifier: CA349342732

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175665010G>A (hg19) ; chr2:g.174800282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800282G>A , CM000664.2:g.174800282G>A	GRCh38
NC_000002.11:g.175665010G>A , CM000664.1:g.175665010G>A	GRCh37
NC_000002.10:g.175373256G>A	NCBI36
NG_012642.1:g.210161C>T
NG_012642.2:g.210161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.839C>T	ENSP00000295497.7:p.Thr280Ile
ENST00000295497.12:c.839C>T	ENSP00000295497.7:p.Thr280Ile
ENST00000409089.7:c.590C>T	ENSP00000386322.3:p.Thr197Ile
ENST00000409900.9:c.1214C>T MANE Select	ENSP00000386741.4:p.Thr405Ile
ENST00000413882.6:c.668C>T	ENSP00000410496.2:p.Thr223Ile
ENST00000443238.6:c.692C>T	ENSP00000409798.2:p.Thr231Ile
ENST00000488080.6:n.857C>T
ENST00000650731.1:c.539C>T	ENSP00000499146.1:p.Thr180Ile
ENST00000650938.1:c.600C>T
ENST00000651246.1:c.806C>T	ENSP00000498484.1:p.Thr269Ile
ENST00000651501.1:c.*661C>T	ENSP00000498894.1:n.*661C>T
ENST00000651717.1:c.*490C>T	ENSP00000499124.1:n.*490C>T
ENST00000652036.1:c.890C>T	ENSP00000499139.1:p.Thr297Ile
ENST00000295497.11:c.839C>T	ENSP00000295497.7:p.Thr280Ile
ENST00000409156.7:c.1136C>T	ENSP00000386470.3:p.Thr379Ile
ENST00000409597.5:c.662C>T	ENSP00000386469.1:p.Thr221Ile
ENST00000409900.7:c.1214C>T	ENSP00000386741.3:p.Thr405Ile
ENST00000488080.5:n.1065C>T
ENST00000492964.1:n.357C>T
NM_001025201.3:c.1136C>T	NP_001020372.2:p.Thr379Ile
NM_001206602.1:c.839C>T	NP_001193531.1:p.Thr280Ile
NM_001822.5:c.1214C>T	NP_001813.1:p.Thr405Ile
NR_038133.1:n.1080C>T
NM_001025201.4:c.1136C>T	NP_001020372.2:p.Thr379Ile
NM_001206602.2:c.839C>T	NP_001193531.1:p.Thr280Ile
NM_001371513.1:c.1214C>T	NP_001358442.1:p.Thr405Ile
NM_001371514.1:c.1265C>T	NP_001358443.1:p.Thr422Ile
NM_001822.7:c.1214C>T MANE Select	NP_001813.1:p.Thr405Ile
NR_038133.2:n.1082C>T