Canonical Allele Identifier: CA349347888

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689222A>G (hg19) ; chr2:g.174824494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824494A>G , CM000664.2:g.174824494A>G	GRCh38
NC_000002.11:g.175689222A>G , CM000664.1:g.175689222A>G	GRCh37
NC_000002.10:g.175397468A>G	NCBI36
NG_012642.1:g.185949T>C
NG_012642.2:g.185949T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.277T>C	ENSP00000295497.7:p.Trp93Arg
ENST00000444394.7:c.277T>C	ENSP00000411911.2:p.Trp93Arg
ENST00000295497.12:c.277T>C	ENSP00000295497.7:p.Trp93Arg
ENST00000409089.7:c.-24T>C	ENSP00000386322.3:n.-24T>C
ENST00000409900.9:c.652T>C MANE Select	ENSP00000386741.4:p.Trp218Arg
ENST00000413882.6:c.106T>C	ENSP00000410496.2:p.Trp36Arg
ENST00000425395.6:c.*99T>C	ENSP00000405270.2:n.*99T>C
ENST00000443238.6:c.130T>C	ENSP00000409798.2:p.Trp44Arg
ENST00000444394.6:c.277T>C	ENSP00000411911.2:p.Trp93Arg
ENST00000444573.2:c.496T>C	ENSP00000392603.2:p.Trp166Arg
ENST00000451799.2:c.496T>C
ENST00000469597.2:c.*300T>C	ENSP00000498417.1:n.*300T>C
ENST00000488080.6:n.295T>C
ENST00000650731.1:c.-24T>C	ENSP00000499146.1:n.-24T>C
ENST00000650734.1:c.*552T>C	ENSP00000498742.1:n.*552T>C
ENST00000650770.1:c.*566T>C	ENSP00000499036.1:n.*566T>C
ENST00000650938.1:c.176T>C
ENST00000651246.1:c.244T>C	ENSP00000498484.1:p.Trp82Arg
ENST00000651315.1:c.244T>C
ENST00000651373.1:c.166T>C	ENSP00000499174.1:p.Trp56Arg
ENST00000651501.1:c.*99T>C	ENSP00000498894.1:n.*99T>C
ENST00000651580.1:c.*231T>C	ENSP00000498631.1:n.*231T>C
ENST00000651717.1:c.253-12012T>C	ENSP00000499124.1:n.253-12012T>C
ENST00000651803.1:c.*644T>C	ENSP00000499007.1:n.*644T>C
ENST00000651971.1:c.*452T>C	ENSP00000499035.1:n.*452T>C
ENST00000652036.1:c.277T>C	ENSP00000499139.1:p.Trp93Arg
ENST00000652154.1:n.550T>C
ENST00000652208.1:c.496T>C
ENST00000652437.1:n.795T>C
ENST00000652674.1:c.*136T>C	ENSP00000498599.1:n.*136T>C
ENST00000652734.1:n.549T>C
ENST00000652756.1:c.496T>C
ENST00000652768.1:n.544T>C
ENST00000295497.11:c.277T>C	ENSP00000295497.7:p.Trp93Arg
ENST00000409089.6:c.-24T>C	ENSP00000386322.2:n.-24T>C
ENST00000409156.7:c.574T>C	ENSP00000386470.3:p.Trp192Arg
ENST00000409597.5:c.100T>C	ENSP00000386469.1:p.Trp34Arg
ENST00000409900.7:c.652T>C	ENSP00000386741.3:p.Trp218Arg
ENST00000413882.5:c.106T>C	ENSP00000410496.1:p.Trp36Arg
ENST00000425395.5:c.*203T>C	ENSP00000405270.1:n.*203T>C
ENST00000443238.5:c.130T>C	ENSP00000409798.1:p.Trp44Arg
ENST00000444394.5:c.-24T>C	ENSP00000411911.1:n.-24T>C
ENST00000444573.1:c.277T>C	ENSP00000392603.1:p.Trp93Arg
ENST00000485882.1:n.111T>C
ENST00000488080.5:n.503T>C
NM_001025201.3:c.574T>C	NP_001020372.2:p.Trp192Arg
NM_001206602.1:c.277T>C	NP_001193531.1:p.Trp93Arg
NM_001822.5:c.652T>C	NP_001813.1:p.Trp218Arg
NR_038133.1:n.518T>C
NM_001025201.4:c.574T>C	NP_001020372.2:p.Trp192Arg
NM_001206602.2:c.277T>C	NP_001193531.1:p.Trp93Arg
NM_001371513.1:c.652T>C	NP_001358442.1:p.Trp218Arg
NM_001371514.1:c.703T>C	NP_001358443.1:p.Trp235Arg
NM_001822.7:c.652T>C MANE Select	NP_001813.1:p.Trp218Arg
NR_038133.2:n.520T>C