Canonical Allele Identifier: CA430017391

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175665006G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800278G>T , CM000664.2:g.174800278G>T	GRCh38
NC_000002.11:g.175665006G>T , CM000664.1:g.175665006G>T	GRCh37
NC_000002.10:g.175373252G>T	NCBI36
NG_012642.1:g.210165C>A
NG_012642.2:g.210165C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.843C>A	ENSP00000295497.7:p.Leu281=
ENST00000295497.12:c.843C>A	ENSP00000295497.7:p.Leu281=
ENST00000409089.7:c.594C>A	ENSP00000386322.3:p.Leu198=
ENST00000409900.9:c.1218C>A MANE Select	ENSP00000386741.4:p.Leu406=
ENST00000413882.6:c.672C>A	ENSP00000410496.2:p.Leu224=
ENST00000443238.6:c.696C>A	ENSP00000409798.2:p.Leu232=
ENST00000488080.6:n.861C>A
ENST00000650731.1:c.543C>A	ENSP00000499146.1:p.Leu181=
ENST00000650938.1:c.604C>A
ENST00000651246.1:c.810C>A	ENSP00000498484.1:p.Leu270=
ENST00000651501.1:c.*665C>A	ENSP00000498894.1:n.*665C>A
ENST00000651717.1:c.*494C>A	ENSP00000499124.1:n.*494C>A
ENST00000652036.1:c.894C>A	ENSP00000499139.1:p.Leu298=
ENST00000295497.11:c.843C>A	ENSP00000295497.7:p.Leu281=
ENST00000409156.7:c.1140C>A	ENSP00000386470.3:p.Leu380=
ENST00000409597.5:c.666C>A	ENSP00000386469.1:p.Leu222=
ENST00000409900.7:c.1218C>A	ENSP00000386741.3:p.Leu406=
ENST00000488080.5:n.1069C>A
ENST00000492964.1:n.361C>A
NM_001025201.3:c.1140C>A	NP_001020372.2:p.Leu380=
NM_001206602.1:c.843C>A	NP_001193531.1:p.Leu281=
NM_001822.5:c.1218C>A	NP_001813.1:p.Leu406=
NR_038133.1:n.1084C>A
NM_001025201.4:c.1140C>A	NP_001020372.2:p.Leu380=
NM_001206602.2:c.843C>A	NP_001193531.1:p.Leu281=
NM_001371513.1:c.1218C>A	NP_001358442.1:p.Leu406=
NM_001371514.1:c.1269C>A	NP_001358443.1:p.Leu423=
NM_001822.7:c.1218C>A MANE Select	NP_001813.1:p.Leu406=
NR_038133.2:n.1086C>A