Canonical Allele Identifier: CA349347879

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689220C>G (hg19) ; chr2:g.174824492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824492C>G , CM000664.2:g.174824492C>G	GRCh38
NC_000002.11:g.175689220C>G , CM000664.1:g.175689220C>G	GRCh37
NC_000002.10:g.175397466C>G	NCBI36
NG_012642.1:g.185951G>C
NG_012642.2:g.185951G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.279G>C	ENSP00000295497.7:p.Trp93Cys
ENST00000444394.7:c.279G>C	ENSP00000411911.2:p.Trp93Cys
ENST00000295497.12:c.279G>C	ENSP00000295497.7:p.Trp93Cys
ENST00000409089.7:c.-22G>C	ENSP00000386322.3:n.-22G>C
ENST00000409900.9:c.654G>C MANE Select	ENSP00000386741.4:p.Trp218Cys
ENST00000413882.6:c.108G>C	ENSP00000410496.2:p.Trp36Cys
ENST00000425395.6:c.*101G>C	ENSP00000405270.2:n.*101G>C
ENST00000443238.6:c.132G>C	ENSP00000409798.2:p.Trp44Cys
ENST00000444394.6:c.279G>C	ENSP00000411911.2:p.Trp93Cys
ENST00000444573.2:c.498G>C	ENSP00000392603.2:p.Trp166Cys
ENST00000469597.2:c.*302G>C	ENSP00000498417.1:n.*302G>C
ENST00000488080.6:n.297G>C
ENST00000650731.1:c.-22G>C	ENSP00000499146.1:n.-22G>C
ENST00000650770.1:c.*568G>C	ENSP00000499036.1:n.*568G>C
ENST00000650938.1:c.178G>C
ENST00000651246.1:c.246G>C	ENSP00000498484.1:p.Trp82Cys
ENST00000651373.1:c.168G>C	ENSP00000499174.1:p.Trp56Cys
ENST00000651501.1:c.*101G>C	ENSP00000498894.1:n.*101G>C
ENST00000651717.1:c.253-12010G>C	ENSP00000499124.1:n.253-12010G>C
ENST00000652036.1:c.279G>C	ENSP00000499139.1:p.Trp93Cys
ENST00000652154.1:n.552G>C
ENST00000652734.1:n.551G>C
ENST00000652768.1:n.546G>C
ENST00000295497.11:c.279G>C	ENSP00000295497.7:p.Trp93Cys
ENST00000409089.6:c.-22G>C	ENSP00000386322.2:n.-22G>C
ENST00000409156.7:c.576G>C	ENSP00000386470.3:p.Trp192Cys
ENST00000409597.5:c.102G>C	ENSP00000386469.1:p.Trp34Cys
ENST00000409900.7:c.654G>C	ENSP00000386741.3:p.Trp218Cys
ENST00000413882.5:c.108G>C	ENSP00000410496.1:p.Trp36Cys
ENST00000425395.5:c.*205G>C	ENSP00000405270.1:n.*205G>C
ENST00000443238.5:c.132G>C	ENSP00000409798.1:p.Trp44Cys
ENST00000444394.5:c.-22G>C	ENSP00000411911.1:n.-22G>C
ENST00000444573.1:c.279G>C	ENSP00000392603.1:p.Trp93Cys
ENST00000485882.1:n.113G>C
ENST00000488080.5:n.505G>C
NM_001025201.3:c.576G>C	NP_001020372.2:p.Trp192Cys
NM_001206602.1:c.279G>C	NP_001193531.1:p.Trp93Cys
NM_001822.5:c.654G>C	NP_001813.1:p.Trp218Cys
NR_038133.1:n.520G>C
NM_001025201.4:c.576G>C	NP_001020372.2:p.Trp192Cys
NM_001206602.2:c.279G>C	NP_001193531.1:p.Trp93Cys
NM_001371513.1:c.654G>C	NP_001358442.1:p.Trp218Cys
NM_001371514.1:c.705G>C	NP_001358443.1:p.Trp235Cys
NM_001822.7:c.654G>C MANE Select	NP_001813.1:p.Trp218Cys
NR_038133.2:n.522G>C