Canonical Allele Identifier: CA349342303

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664940T>A (hg19) ; chr2:g.174800212T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800212T>A , CM000664.2:g.174800212T>A	GRCh38
NC_000002.11:g.175664940T>A , CM000664.1:g.175664940T>A	GRCh37
NC_000002.10:g.175373186T>A	NCBI36
NG_012642.1:g.210231A>T
NG_012642.2:g.210231A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.909A>T	ENSP00000295497.7:p.Arg303Ser
ENST00000295497.12:c.909A>T	ENSP00000295497.7:p.Arg303Ser
ENST00000409900.9:c.1284A>T MANE Select	ENSP00000386741.4:p.Arg428Ser
ENST00000413882.6:c.738A>T	ENSP00000410496.2:p.Arg246Ser
ENST00000443238.6:c.762A>T	ENSP00000409798.2:p.Arg254Ser
ENST00000488080.6:n.927A>T
ENST00000650731.1:c.609A>T	ENSP00000499146.1:p.Arg203Ser
ENST00000650938.1:c.670A>T
ENST00000651246.1:c.876A>T	ENSP00000498484.1:p.Arg292Ser
ENST00000651501.1:c.*731A>T	ENSP00000498894.1:n.*731A>T
ENST00000651717.1:c.*560A>T	ENSP00000499124.1:n.*560A>T
ENST00000652036.1:c.960A>T	ENSP00000499139.1:p.Arg320Ser
ENST00000295497.11:c.909A>T	ENSP00000295497.7:p.Arg303Ser
ENST00000409156.7:c.1206A>T	ENSP00000386470.3:p.Arg402Ser
ENST00000409597.5:c.732A>T	ENSP00000386469.1:p.Arg244Ser
ENST00000409900.7:c.1284A>T	ENSP00000386741.3:p.Arg428Ser
ENST00000488080.5:n.1135A>T
ENST00000492964.1:n.427A>T
NM_001025201.3:c.1206A>T	NP_001020372.2:p.Arg402Ser
NM_001206602.1:c.909A>T	NP_001193531.1:p.Arg303Ser
NM_001822.5:c.1284A>T	NP_001813.1:p.Arg428Ser
NR_038133.1:n.1150A>T
NM_001025201.4:c.1206A>T	NP_001020372.2:p.Arg402Ser
NM_001206602.2:c.909A>T	NP_001193531.1:p.Arg303Ser
NM_001371513.1:c.1284A>T	NP_001358442.1:p.Arg428Ser
NM_001371514.1:c.1335A>T	NP_001358443.1:p.Arg445Ser
NM_001822.7:c.1284A>T MANE Select	NP_001813.1:p.Arg428Ser
NR_038133.2:n.1152A>T