Canonical Allele Identifier: CA349342493

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664974T>C (hg19) ; chr2:g.174800246T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800246T>C , CM000664.2:g.174800246T>C	GRCh38
NC_000002.11:g.175664974T>C , CM000664.1:g.175664974T>C	GRCh37
NC_000002.10:g.175373220T>C	NCBI36
NG_012642.1:g.210197A>G
NG_012642.2:g.210197A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.875A>G	ENSP00000295497.7:p.Asn292Ser
ENST00000295497.12:c.875A>G	ENSP00000295497.7:p.Asn292Ser
ENST00000409900.9:c.1250A>G MANE Select	ENSP00000386741.4:p.Asn417Ser
ENST00000413882.6:c.704A>G	ENSP00000410496.2:p.Asn235Ser
ENST00000443238.6:c.728A>G	ENSP00000409798.2:p.Asn243Ser
ENST00000488080.6:n.893A>G
ENST00000650731.1:c.575A>G	ENSP00000499146.1:p.Asn192Ser
ENST00000650938.1:c.636A>G
ENST00000651246.1:c.842A>G	ENSP00000498484.1:p.Asn281Ser
ENST00000651501.1:c.*697A>G	ENSP00000498894.1:n.*697A>G
ENST00000651717.1:c.*526A>G	ENSP00000499124.1:n.*526A>G
ENST00000652036.1:c.926A>G	ENSP00000499139.1:p.Asn309Ser
ENST00000295497.11:c.875A>G	ENSP00000295497.7:p.Asn292Ser
ENST00000409156.7:c.1172A>G	ENSP00000386470.3:p.Asn391Ser
ENST00000409597.5:c.698A>G	ENSP00000386469.1:p.Asn233Ser
ENST00000409900.7:c.1250A>G	ENSP00000386741.3:p.Asn417Ser
ENST00000488080.5:n.1101A>G
ENST00000492964.1:n.393A>G
NM_001025201.3:c.1172A>G	NP_001020372.2:p.Asn391Ser
NM_001206602.1:c.875A>G	NP_001193531.1:p.Asn292Ser
NM_001822.5:c.1250A>G	NP_001813.1:p.Asn417Ser
NR_038133.1:n.1116A>G
NM_001025201.4:c.1172A>G	NP_001020372.2:p.Asn391Ser
NM_001206602.2:c.875A>G	NP_001193531.1:p.Asn292Ser
NM_001371513.1:c.1250A>G	NP_001358442.1:p.Asn417Ser
NM_001371514.1:c.1301A>G	NP_001358443.1:p.Asn434Ser
NM_001822.7:c.1250A>G MANE Select	NP_001813.1:p.Asn417Ser
NR_038133.2:n.1118A>G