Canonical Allele Identifier: CA349342100

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664899C>G (hg19) ; chr2:g.174800171C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800171C>G , CM000664.2:g.174800171C>G	GRCh38
NC_000002.11:g.175664899C>G , CM000664.1:g.175664899C>G	GRCh37
NC_000002.10:g.175373145C>G	NCBI36
NG_012642.1:g.210272G>C
NG_012642.2:g.210272G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.950G>C	ENSP00000295497.7:p.Arg317Pro
ENST00000295497.12:c.950G>C	ENSP00000295497.7:p.Arg317Pro
ENST00000409900.9:c.1325G>C MANE Select	ENSP00000386741.4:p.Arg442Pro
ENST00000413882.6:c.779G>C	ENSP00000410496.2:p.Arg260Pro
ENST00000443238.6:c.803G>C	ENSP00000409798.2:p.Arg268Pro
ENST00000488080.6:n.968G>C
ENST00000650731.1:c.650G>C	ENSP00000499146.1:p.Arg217Pro
ENST00000650938.1:c.711G>C
ENST00000651246.1:c.917G>C	ENSP00000498484.1:p.Arg306Pro
ENST00000651501.1:c.*772G>C	ENSP00000498894.1:n.*772G>C
ENST00000651717.1:c.*601G>C	ENSP00000499124.1:n.*601G>C
ENST00000652036.1:c.1001G>C	ENSP00000499139.1:p.Arg334Pro
ENST00000295497.11:c.950G>C	ENSP00000295497.7:p.Arg317Pro
ENST00000409156.7:c.1247G>C	ENSP00000386470.3:p.Arg416Pro
ENST00000409597.5:c.773G>C	ENSP00000386469.1:p.Arg258Pro
ENST00000409900.7:c.1325G>C	ENSP00000386741.3:p.Arg442Pro
ENST00000488080.5:n.1176G>C
ENST00000492964.1:n.468G>C
NM_001025201.3:c.1247G>C	NP_001020372.2:p.Arg416Pro
NM_001206602.1:c.950G>C	NP_001193531.1:p.Arg317Pro
NM_001822.5:c.1325G>C	NP_001813.1:p.Arg442Pro
NR_038133.1:n.1191G>C
NM_001025201.4:c.1247G>C	NP_001020372.2:p.Arg416Pro
NM_001206602.2:c.950G>C	NP_001193531.1:p.Arg317Pro
NM_001371513.1:c.1325G>C	NP_001358442.1:p.Arg442Pro
NM_001371514.1:c.1376G>C	NP_001358443.1:p.Arg459Pro
NM_001822.7:c.1325G>C MANE Select	NP_001813.1:p.Arg442Pro
NR_038133.2:n.1193G>C