Canonical Allele Identifier: CA349341875

Gene: CHN1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.992A>G	ENSP00000295497.7:p.Asp331Gly
ENST00000295497.12:c.992A>G	ENSP00000295497.7:p.Asp331Gly
ENST00000409900.9:c.1367A>G MANE Select	ENSP00000386741.4:p.Asp456Gly
ENST00000413882.6:c.821A>G	ENSP00000410496.2:p.Asp274Gly
ENST00000443238.6:c.845A>G	ENSP00000409798.2:p.Asp282Gly
ENST00000488080.6:n.1010A>G
ENST00000650731.1:c.692A>G	ENSP00000499146.1:p.Asp231Gly
ENST00000650938.1:c.753A>G
ENST00000651246.1:c.959A>G	ENSP00000498484.1:p.Asp320Gly
ENST00000651501.1:c.*814A>G	ENSP00000498894.1:n.*814A>G
ENST00000651717.1:c.*643A>G	ENSP00000499124.1:n.*643A>G
ENST00000652036.1:c.1043A>G	ENSP00000499139.1:p.Asp348Gly
ENST00000295497.11:c.992A>G	ENSP00000295497.7:p.Asp331Gly
ENST00000409156.7:c.1289A>G	ENSP00000386470.3:p.Asp430Gly
ENST00000409597.5:c.815A>G	ENSP00000386469.1:p.Asp272Gly
ENST00000409900.7:c.1367A>G	ENSP00000386741.3:p.Asp456Gly
ENST00000488080.5:n.1218A>G
ENST00000492964.1:n.510A>G
NM_001025201.3:c.1289A>G	NP_001020372.2:p.Asp430Gly
NM_001206602.1:c.992A>G	NP_001193531.1:p.Asp331Gly
NM_001822.5:c.1367A>G	NP_001813.1:p.Asp456Gly
NR_038133.1:n.1233A>G
NM_001025201.4:c.1289A>G	NP_001020372.2:p.Asp430Gly
NM_001206602.2:c.992A>G	NP_001193531.1:p.Asp331Gly
NM_001371513.1:c.1367A>G	NP_001358442.1:p.Asp456Gly
NM_001371514.1:c.1418A>G	NP_001358443.1:p.Asp473Gly
NM_001822.7:c.1367A>G MANE Select	NP_001813.1:p.Asp456Gly
NR_038133.2:n.1235A>G