Canonical Allele Identifier: CA349341877

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664857T>A (hg19) ; chr2:g.174800129T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800129T>A , CM000664.2:g.174800129T>A	GRCh38
NC_000002.11:g.175664857T>A , CM000664.1:g.175664857T>A	GRCh37
NC_000002.10:g.175373103T>A	NCBI36
NG_012642.1:g.210314A>T
NG_012642.2:g.210314A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.992A>T	ENSP00000295497.7:p.Asp331Val
ENST00000295497.12:c.992A>T	ENSP00000295497.7:p.Asp331Val
ENST00000409900.9:c.1367A>T MANE Select	ENSP00000386741.4:p.Asp456Val
ENST00000413882.6:c.821A>T	ENSP00000410496.2:p.Asp274Val
ENST00000443238.6:c.845A>T	ENSP00000409798.2:p.Asp282Val
ENST00000488080.6:n.1010A>T
ENST00000650731.1:c.692A>T	ENSP00000499146.1:p.Asp231Val
ENST00000650938.1:c.753A>T
ENST00000651246.1:c.959A>T	ENSP00000498484.1:p.Asp320Val
ENST00000651501.1:c.*814A>T	ENSP00000498894.1:n.*814A>T
ENST00000651717.1:c.*643A>T	ENSP00000499124.1:n.*643A>T
ENST00000652036.1:c.1043A>T	ENSP00000499139.1:p.Asp348Val
ENST00000295497.11:c.992A>T	ENSP00000295497.7:p.Asp331Val
ENST00000409156.7:c.1289A>T	ENSP00000386470.3:p.Asp430Val
ENST00000409597.5:c.815A>T	ENSP00000386469.1:p.Asp272Val
ENST00000409900.7:c.1367A>T	ENSP00000386741.3:p.Asp456Val
ENST00000488080.5:n.1218A>T
ENST00000492964.1:n.510A>T
NM_001025201.3:c.1289A>T	NP_001020372.2:p.Asp430Val
NM_001206602.1:c.992A>T	NP_001193531.1:p.Asp331Val
NM_001822.5:c.1367A>T	NP_001813.1:p.Asp456Val
NR_038133.1:n.1233A>T
NM_001025201.4:c.1289A>T	NP_001020372.2:p.Asp430Val
NM_001206602.2:c.992A>T	NP_001193531.1:p.Asp331Val
NM_001371513.1:c.1367A>T	NP_001358442.1:p.Asp456Val
NM_001371514.1:c.1418A>T	NP_001358443.1:p.Asp473Val
NM_001822.7:c.1367A>T MANE Select	NP_001813.1:p.Asp456Val
NR_038133.2:n.1235A>T