Canonical Allele Identifier: CA349341869

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664856G>C (hg19) ; chr2:g.174800128G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800128G>C , CM000664.2:g.174800128G>C	GRCh38
NC_000002.11:g.175664856G>C , CM000664.1:g.175664856G>C	GRCh37
NC_000002.10:g.175373102G>C	NCBI36
NG_012642.1:g.210315C>G
NG_012642.2:g.210315C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.993C>G	ENSP00000295497.7:p.Asp331Glu
ENST00000295497.12:c.993C>G	ENSP00000295497.7:p.Asp331Glu
ENST00000409900.9:c.1368C>G MANE Select	ENSP00000386741.4:p.Asp456Glu
ENST00000413882.6:c.822C>G	ENSP00000410496.2:p.Asp274Glu
ENST00000443238.6:c.846C>G	ENSP00000409798.2:p.Asp282Glu
ENST00000488080.6:n.1011C>G
ENST00000650731.1:c.693C>G	ENSP00000499146.1:p.Asp231Glu
ENST00000650938.1:c.754C>G
ENST00000651246.1:c.960C>G	ENSP00000498484.1:p.Asp320Glu
ENST00000651501.1:c.*815C>G	ENSP00000498894.1:n.*815C>G
ENST00000651717.1:c.*644C>G	ENSP00000499124.1:n.*644C>G
ENST00000652036.1:c.1044C>G	ENSP00000499139.1:p.Asp348Glu
ENST00000295497.11:c.993C>G	ENSP00000295497.7:p.Asp331Glu
ENST00000409156.7:c.1290C>G	ENSP00000386470.3:p.Asp430Glu
ENST00000409597.5:c.816C>G	ENSP00000386469.1:p.Asp272Glu
ENST00000409900.7:c.1368C>G	ENSP00000386741.3:p.Asp456Glu
ENST00000488080.5:n.1219C>G
ENST00000492964.1:n.511C>G
NM_001025201.3:c.1290C>G	NP_001020372.2:p.Asp430Glu
NM_001206602.1:c.993C>G	NP_001193531.1:p.Asp331Glu
NM_001822.5:c.1368C>G	NP_001813.1:p.Asp456Glu
NR_038133.1:n.1234C>G
NM_001025201.4:c.1290C>G	NP_001020372.2:p.Asp430Glu
NM_001206602.2:c.993C>G	NP_001193531.1:p.Asp331Glu
NM_001371513.1:c.1368C>G	NP_001358442.1:p.Asp456Glu
NM_001371514.1:c.1419C>G	NP_001358443.1:p.Asp473Glu
NM_001822.7:c.1368C>G MANE Select	NP_001813.1:p.Asp456Glu
NR_038133.2:n.1236C>G