Canonical Allele Identifier: CA349341845

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664851A>G (hg19) ; chr2:g.174800123A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800123A>G , CM000664.2:g.174800123A>G	GRCh38
NC_000002.11:g.175664851A>G , CM000664.1:g.175664851A>G	GRCh37
NC_000002.10:g.175373097A>G	NCBI36
NG_012642.1:g.210320T>C
NG_012642.2:g.210320T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.998T>C	ENSP00000295497.7:p.Leu333Ser
ENST00000295497.12:c.998T>C	ENSP00000295497.7:p.Leu333Ser
ENST00000409900.9:c.1373T>C MANE Select	ENSP00000386741.4:p.Leu458Ser
ENST00000413882.6:c.827T>C	ENSP00000410496.2:p.Leu276Ser
ENST00000443238.6:c.851T>C	ENSP00000409798.2:p.Leu284Ser
ENST00000488080.6:n.1016T>C
ENST00000650731.1:c.698T>C	ENSP00000499146.1:p.Leu233Ser
ENST00000650938.1:c.759T>C
ENST00000651246.1:c.965T>C	ENSP00000498484.1:p.Leu322Ser
ENST00000651501.1:c.*820T>C	ENSP00000498894.1:n.*820T>C
ENST00000651717.1:c.*649T>C	ENSP00000499124.1:n.*649T>C
ENST00000652036.1:c.1049T>C	ENSP00000499139.1:p.Leu350Ser
ENST00000295497.11:c.998T>C	ENSP00000295497.7:p.Leu333Ser
ENST00000409156.7:c.1295T>C	ENSP00000386470.3:p.Leu432Ser
ENST00000409597.5:c.821T>C	ENSP00000386469.1:p.Leu274Ser
ENST00000409900.7:c.1373T>C	ENSP00000386741.3:p.Leu458Ser
ENST00000488080.5:n.1224T>C
ENST00000492964.1:n.516T>C
NM_001025201.3:c.1295T>C	NP_001020372.2:p.Leu432Ser
NM_001206602.1:c.998T>C	NP_001193531.1:p.Leu333Ser
NM_001822.5:c.1373T>C	NP_001813.1:p.Leu458Ser
NR_038133.1:n.1239T>C
NM_001025201.4:c.1295T>C	NP_001020372.2:p.Leu432Ser
NM_001206602.2:c.998T>C	NP_001193531.1:p.Leu333Ser
NM_001371513.1:c.1373T>C	NP_001358442.1:p.Leu458Ser
NM_001371514.1:c.1424T>C	NP_001358443.1:p.Leu475Ser
NM_001822.7:c.1373T>C MANE Select	NP_001813.1:p.Leu458Ser
NR_038133.2:n.1241T>C