Canonical Allele Identifier: CA349342315

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664943C>G (hg19) ; chr2:g.174800215C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800215C>G , CM000664.2:g.174800215C>G	GRCh38
NC_000002.11:g.175664943C>G , CM000664.1:g.175664943C>G	GRCh37
NC_000002.10:g.175373189C>G	NCBI36
NG_012642.1:g.210228G>C
NG_012642.2:g.210228G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.906G>C	ENSP00000295497.7:p.Met302Ile
ENST00000295497.12:c.906G>C	ENSP00000295497.7:p.Met302Ile
ENST00000409900.9:c.1281G>C MANE Select	ENSP00000386741.4:p.Met427Ile
ENST00000413882.6:c.735G>C	ENSP00000410496.2:p.Met245Ile
ENST00000443238.6:c.759G>C	ENSP00000409798.2:p.Met253Ile
ENST00000488080.6:n.924G>C
ENST00000650731.1:c.606G>C	ENSP00000499146.1:p.Met202Ile
ENST00000650938.1:c.667G>C
ENST00000651246.1:c.873G>C	ENSP00000498484.1:p.Met291Ile
ENST00000651501.1:c.*728G>C	ENSP00000498894.1:n.*728G>C
ENST00000651717.1:c.*557G>C	ENSP00000499124.1:n.*557G>C
ENST00000652036.1:c.957G>C	ENSP00000499139.1:p.Met319Ile
ENST00000295497.11:c.906G>C	ENSP00000295497.7:p.Met302Ile
ENST00000409156.7:c.1203G>C	ENSP00000386470.3:p.Met401Ile
ENST00000409597.5:c.729G>C	ENSP00000386469.1:p.Met243Ile
ENST00000409900.7:c.1281G>C	ENSP00000386741.3:p.Met427Ile
ENST00000488080.5:n.1132G>C
ENST00000492964.1:n.424G>C
NM_001025201.3:c.1203G>C	NP_001020372.2:p.Met401Ile
NM_001206602.1:c.906G>C	NP_001193531.1:p.Met302Ile
NM_001822.5:c.1281G>C	NP_001813.1:p.Met427Ile
NR_038133.1:n.1147G>C
NM_001025201.4:c.1203G>C	NP_001020372.2:p.Met401Ile
NM_001206602.2:c.906G>C	NP_001193531.1:p.Met302Ile
NM_001371513.1:c.1281G>C	NP_001358442.1:p.Met427Ile
NM_001371514.1:c.1332G>C	NP_001358443.1:p.Met444Ile
NM_001822.7:c.1281G>C MANE Select	NP_001813.1:p.Met427Ile
NR_038133.2:n.1149G>C