Canonical Allele Identifier: CA430017399

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175665012C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800284C>T , CM000664.2:g.174800284C>T	GRCh38
NC_000002.11:g.175665012C>T , CM000664.1:g.175665012C>T	GRCh37
NC_000002.10:g.175373258C>T	NCBI36
NG_012642.1:g.210159G>A
NG_012642.2:g.210159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.837G>A	ENSP00000295497.7:p.Val279=
ENST00000444394.7:c.966G>A	ENSP00000411911.2:p.Val322=
ENST00000295497.12:c.837G>A	ENSP00000295497.7:p.Val279=
ENST00000409089.7:c.588G>A	ENSP00000386322.3:p.Val196=
ENST00000409900.9:c.1212G>A MANE Select	ENSP00000386741.4:p.Val404=
ENST00000413882.6:c.666G>A	ENSP00000410496.2:p.Val222=
ENST00000443238.6:c.690G>A	ENSP00000409798.2:p.Val230=
ENST00000444394.6:c.966G>A	ENSP00000411911.2:p.Val322=
ENST00000488080.6:n.855G>A
ENST00000650731.1:c.537G>A	ENSP00000499146.1:p.Val179=
ENST00000650938.1:c.598G>A
ENST00000651246.1:c.804G>A	ENSP00000498484.1:p.Val268=
ENST00000651501.1:c.*659G>A	ENSP00000498894.1:n.*659G>A
ENST00000651717.1:c.*488G>A	ENSP00000499124.1:n.*488G>A
ENST00000652036.1:c.888G>A	ENSP00000499139.1:p.Val296=
ENST00000295497.11:c.837G>A	ENSP00000295497.7:p.Val279=
ENST00000409156.7:c.1134G>A	ENSP00000386470.3:p.Val378=
ENST00000409597.5:c.660G>A	ENSP00000386469.1:p.Val220=
ENST00000409900.7:c.1212G>A	ENSP00000386741.3:p.Val404=
ENST00000488080.5:n.1063G>A
ENST00000492964.1:n.355G>A
NM_001025201.3:c.1134G>A	NP_001020372.2:p.Val378=
NM_001206602.1:c.837G>A	NP_001193531.1:p.Val279=
NM_001822.5:c.1212G>A	NP_001813.1:p.Val404=
NR_038133.1:n.1078G>A
NM_001025201.4:c.1134G>A	NP_001020372.2:p.Val378=
NM_001206602.2:c.837G>A	NP_001193531.1:p.Val279=
NM_001371513.1:c.1212G>A	NP_001358442.1:p.Val404=
NM_001371514.1:c.1263G>A	NP_001358443.1:p.Val421=
NM_001822.7:c.1212G>A MANE Select	NP_001813.1:p.Val404=
NR_038133.2:n.1080G>A