Canonical Allele Identifier: CA349342371

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664954G>C (hg19) ; chr2:g.174800226G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800226G>C , CM000664.2:g.174800226G>C	GRCh38
NC_000002.11:g.175664954G>C , CM000664.1:g.175664954G>C	GRCh37
NC_000002.10:g.175373200G>C	NCBI36
NG_012642.1:g.210217C>G
NG_012642.2:g.210217C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.895C>G	ENSP00000295497.7:p.Pro299Ala
ENST00000295497.12:c.895C>G	ENSP00000295497.7:p.Pro299Ala
ENST00000409900.9:c.1270C>G MANE Select	ENSP00000386741.4:p.Pro424Ala
ENST00000413882.6:c.724C>G	ENSP00000410496.2:p.Pro242Ala
ENST00000443238.6:c.748C>G	ENSP00000409798.2:p.Pro250Ala
ENST00000488080.6:n.913C>G
ENST00000650731.1:c.595C>G	ENSP00000499146.1:p.Pro199Ala
ENST00000650938.1:c.656C>G
ENST00000651246.1:c.862C>G	ENSP00000498484.1:p.Pro288Ala
ENST00000651501.1:c.*717C>G	ENSP00000498894.1:n.*717C>G
ENST00000651717.1:c.*546C>G	ENSP00000499124.1:n.*546C>G
ENST00000652036.1:c.946C>G	ENSP00000499139.1:p.Pro316Ala
ENST00000295497.11:c.895C>G	ENSP00000295497.7:p.Pro299Ala
ENST00000409156.7:c.1192C>G	ENSP00000386470.3:p.Pro398Ala
ENST00000409597.5:c.718C>G	ENSP00000386469.1:p.Pro240Ala
ENST00000409900.7:c.1270C>G	ENSP00000386741.3:p.Pro424Ala
ENST00000488080.5:n.1121C>G
ENST00000492964.1:n.413C>G
NM_001025201.3:c.1192C>G	NP_001020372.2:p.Pro398Ala
NM_001206602.1:c.895C>G	NP_001193531.1:p.Pro299Ala
NM_001822.5:c.1270C>G	NP_001813.1:p.Pro424Ala
NR_038133.1:n.1136C>G
NM_001025201.4:c.1192C>G	NP_001020372.2:p.Pro398Ala
NM_001206602.2:c.895C>G	NP_001193531.1:p.Pro299Ala
NM_001371513.1:c.1270C>G	NP_001358442.1:p.Pro424Ala
NM_001371514.1:c.1321C>G	NP_001358443.1:p.Pro441Ala
NM_001822.7:c.1270C>G MANE Select	NP_001813.1:p.Pro424Ala
NR_038133.2:n.1138C>G