Canonical Allele Identifier: CA349342347

Gene: CHN1

Linked Data

• dbSNP Id: rs2105369052
• MyVariant Identifiers: chr2:g.175664951T>C (hg19) ; chr2:g.174800223T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800223T>C , CM000664.2:g.174800223T>C	GRCh38
NC_000002.11:g.175664951T>C , CM000664.1:g.175664951T>C	GRCh37
NC_000002.10:g.175373197T>C	NCBI36
NG_012642.1:g.210220A>G
NG_012642.2:g.210220A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.898A>G	ENSP00000295497.7:p.Thr300Ala
ENST00000295497.12:c.898A>G	ENSP00000295497.7:p.Thr300Ala
ENST00000409900.9:c.1273A>G MANE Select	ENSP00000386741.4:p.Thr425Ala
ENST00000413882.6:c.727A>G	ENSP00000410496.2:p.Thr243Ala
ENST00000443238.6:c.751A>G	ENSP00000409798.2:p.Thr251Ala
ENST00000488080.6:n.916A>G
ENST00000650731.1:c.598A>G	ENSP00000499146.1:p.Thr200Ala
ENST00000650938.1:c.659A>G
ENST00000651246.1:c.865A>G	ENSP00000498484.1:p.Thr289Ala
ENST00000651501.1:c.*720A>G	ENSP00000498894.1:n.*720A>G
ENST00000651717.1:c.*549A>G	ENSP00000499124.1:n.*549A>G
ENST00000652036.1:c.949A>G	ENSP00000499139.1:p.Thr317Ala
ENST00000295497.11:c.898A>G	ENSP00000295497.7:p.Thr300Ala
ENST00000409156.7:c.1195A>G	ENSP00000386470.3:p.Thr399Ala
ENST00000409597.5:c.721A>G	ENSP00000386469.1:p.Thr241Ala
ENST00000409900.7:c.1273A>G	ENSP00000386741.3:p.Thr425Ala
ENST00000488080.5:n.1124A>G
ENST00000492964.1:n.416A>G
NM_001025201.3:c.1195A>G	NP_001020372.2:p.Thr399Ala
NM_001206602.1:c.898A>G	NP_001193531.1:p.Thr300Ala
NM_001822.5:c.1273A>G	NP_001813.1:p.Thr425Ala
NR_038133.1:n.1139A>G
NM_001025201.4:c.1195A>G	NP_001020372.2:p.Thr399Ala
NM_001206602.2:c.898A>G	NP_001193531.1:p.Thr300Ala
NM_001371513.1:c.1273A>G	NP_001358442.1:p.Thr425Ala
NM_001371514.1:c.1324A>G	NP_001358443.1:p.Thr442Ala
NM_001822.7:c.1273A>G MANE Select	NP_001813.1:p.Thr425Ala
NR_038133.2:n.1141A>G