Canonical Allele Identifier: CA430017381

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664997C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800269C>T , CM000664.2:g.174800269C>T	GRCh38
NC_000002.11:g.175664997C>T , CM000664.1:g.175664997C>T	GRCh37
NC_000002.10:g.175373243C>T	NCBI36
NG_012642.1:g.210174G>A
NG_012642.2:g.210174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.852G>A	ENSP00000295497.7:p.Lys284=
ENST00000295497.12:c.852G>A	ENSP00000295497.7:p.Lys284=
ENST00000409089.7:c.603G>A	ENSP00000386322.3:p.Lys201=
ENST00000409900.9:c.1227G>A MANE Select	ENSP00000386741.4:p.Lys409=
ENST00000413882.6:c.681G>A	ENSP00000410496.2:p.Lys227=
ENST00000443238.6:c.705G>A	ENSP00000409798.2:p.Lys235=
ENST00000488080.6:n.870G>A
ENST00000650731.1:c.552G>A	ENSP00000499146.1:p.Lys184=
ENST00000650938.1:c.613G>A
ENST00000651246.1:c.819G>A	ENSP00000498484.1:p.Lys273=
ENST00000651501.1:c.*674G>A	ENSP00000498894.1:n.*674G>A
ENST00000651717.1:c.*503G>A	ENSP00000499124.1:n.*503G>A
ENST00000652036.1:c.903G>A	ENSP00000499139.1:p.Lys301=
ENST00000295497.11:c.852G>A	ENSP00000295497.7:p.Lys284=
ENST00000409156.7:c.1149G>A	ENSP00000386470.3:p.Lys383=
ENST00000409597.5:c.675G>A	ENSP00000386469.1:p.Lys225=
ENST00000409900.7:c.1227G>A	ENSP00000386741.3:p.Lys409=
ENST00000488080.5:n.1078G>A
ENST00000492964.1:n.370G>A
NM_001025201.3:c.1149G>A	NP_001020372.2:p.Lys383=
NM_001206602.1:c.852G>A	NP_001193531.1:p.Lys284=
NM_001822.5:c.1227G>A	NP_001813.1:p.Lys409=
NR_038133.1:n.1093G>A
NM_001025201.4:c.1149G>A	NP_001020372.2:p.Lys383=
NM_001206602.2:c.852G>A	NP_001193531.1:p.Lys284=
NM_001371513.1:c.1227G>A	NP_001358442.1:p.Lys409=
NM_001371514.1:c.1278G>A	NP_001358443.1:p.Lys426=
NM_001822.7:c.1227G>A MANE Select	NP_001813.1:p.Lys409=
NR_038133.2:n.1095G>A