Canonical Allele Identifier: CA349347742

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689191C>T (hg19) ; chr2:g.174824463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824463C>T , CM000664.2:g.174824463C>T	GRCh38
NC_000002.11:g.175689191C>T , CM000664.1:g.175689191C>T	GRCh37
NC_000002.10:g.175397437C>T	NCBI36
NG_012642.1:g.185980G>A
NG_012642.2:g.185980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.308G>A	ENSP00000295497.7:p.Gly103Asp
ENST00000444394.7:c.308G>A	ENSP00000411911.2:p.Gly103Asp
ENST00000295497.12:c.308G>A	ENSP00000295497.7:p.Gly103Asp
ENST00000409089.7:c.8G>A	ENSP00000386322.3:p.Gly3Asp
ENST00000409900.9:c.683G>A MANE Select	ENSP00000386741.4:p.Gly228Asp
ENST00000413882.6:c.137G>A	ENSP00000410496.2:p.Gly46Asp
ENST00000425395.6:c.*130G>A	ENSP00000405270.2:n.*130G>A
ENST00000443238.6:c.161G>A	ENSP00000409798.2:p.Gly54Asp
ENST00000444394.6:c.308G>A	ENSP00000411911.2:p.Gly103Asp
ENST00000444573.2:c.527G>A	ENSP00000392603.2:p.Gly176Asp
ENST00000488080.6:n.326G>A
ENST00000650731.1:c.8G>A	ENSP00000499146.1:p.Gly3Asp
ENST00000650938.1:c.207G>A
ENST00000651246.1:c.275G>A	ENSP00000498484.1:p.Gly92Asp
ENST00000651373.1:c.197G>A	ENSP00000499174.1:p.Gly66Asp
ENST00000651501.1:c.*130G>A	ENSP00000498894.1:n.*130G>A
ENST00000651717.1:c.253-11981G>A	ENSP00000499124.1:n.253-11981G>A
ENST00000652036.1:c.308G>A	ENSP00000499139.1:p.Gly103Asp
ENST00000652154.1:n.581G>A
ENST00000295497.11:c.308G>A	ENSP00000295497.7:p.Gly103Asp
ENST00000409089.6:c.8G>A	ENSP00000386322.2:p.Gly3Asp
ENST00000409156.7:c.605G>A	ENSP00000386470.3:p.Gly202Asp
ENST00000409597.5:c.131G>A	ENSP00000386469.1:p.Gly44Asp
ENST00000409900.7:c.683G>A	ENSP00000386741.3:p.Gly228Asp
ENST00000413882.5:c.137G>A	ENSP00000410496.1:p.Gly46Asp
ENST00000425395.5:c.*234G>A	ENSP00000405270.1:n.*234G>A
ENST00000443238.5:c.161G>A	ENSP00000409798.1:p.Gly54Asp
ENST00000444394.5:c.8G>A	ENSP00000411911.1:p.Gly3Asp
ENST00000444573.1:c.308G>A	ENSP00000392603.1:p.Gly103Asp
ENST00000485882.1:n.142G>A
ENST00000488080.5:n.534G>A
NM_001025201.3:c.605G>A	NP_001020372.2:p.Gly202Asp
NM_001206602.1:c.308G>A	NP_001193531.1:p.Gly103Asp
NM_001822.5:c.683G>A	NP_001813.1:p.Gly228Asp
NR_038133.1:n.549G>A
NM_001025201.4:c.605G>A	NP_001020372.2:p.Gly202Asp
NM_001206602.2:c.308G>A	NP_001193531.1:p.Gly103Asp
NM_001371513.1:c.683G>A	NP_001358442.1:p.Gly228Asp
NM_001371514.1:c.734G>A	NP_001358443.1:p.Gly245Asp
NM_001822.7:c.683G>A MANE Select	NP_001813.1:p.Gly228Asp
NR_038133.2:n.551G>A