Canonical Allele Identifier: CA349342150

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664909T>A (hg19) ; chr2:g.174800181T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800181T>A , CM000664.2:g.174800181T>A	GRCh38
NC_000002.11:g.175664909T>A , CM000664.1:g.175664909T>A	GRCh37
NC_000002.10:g.175373155T>A	NCBI36
NG_012642.1:g.210262A>T
NG_012642.2:g.210262A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.940A>T	ENSP00000295497.7:p.Asn314Tyr
ENST00000295497.12:c.940A>T	ENSP00000295497.7:p.Asn314Tyr
ENST00000409900.9:c.1315A>T MANE Select	ENSP00000386741.4:p.Asn439Tyr
ENST00000413882.6:c.769A>T	ENSP00000410496.2:p.Asn257Tyr
ENST00000443238.6:c.793A>T	ENSP00000409798.2:p.Asn265Tyr
ENST00000488080.6:n.958A>T
ENST00000650731.1:c.640A>T	ENSP00000499146.1:p.Asn214Tyr
ENST00000650938.1:c.701A>T
ENST00000651246.1:c.907A>T	ENSP00000498484.1:p.Asn303Tyr
ENST00000651501.1:c.*762A>T	ENSP00000498894.1:n.*762A>T
ENST00000651717.1:c.*591A>T	ENSP00000499124.1:n.*591A>T
ENST00000652036.1:c.991A>T	ENSP00000499139.1:p.Asn331Tyr
ENST00000295497.11:c.940A>T	ENSP00000295497.7:p.Asn314Tyr
ENST00000409156.7:c.1237A>T	ENSP00000386470.3:p.Asn413Tyr
ENST00000409597.5:c.763A>T	ENSP00000386469.1:p.Asn255Tyr
ENST00000409900.7:c.1315A>T	ENSP00000386741.3:p.Asn439Tyr
ENST00000488080.5:n.1166A>T
ENST00000492964.1:n.458A>T
NM_001025201.3:c.1237A>T	NP_001020372.2:p.Asn413Tyr
NM_001206602.1:c.940A>T	NP_001193531.1:p.Asn314Tyr
NM_001822.5:c.1315A>T	NP_001813.1:p.Asn439Tyr
NR_038133.1:n.1181A>T
NM_001025201.4:c.1237A>T	NP_001020372.2:p.Asn413Tyr
NM_001206602.2:c.940A>T	NP_001193531.1:p.Asn314Tyr
NM_001371513.1:c.1315A>T	NP_001358442.1:p.Asn439Tyr
NM_001371514.1:c.1366A>T	NP_001358443.1:p.Asn456Tyr
NM_001822.7:c.1315A>T MANE Select	NP_001813.1:p.Asn439Tyr
NR_038133.2:n.1183A>T