Canonical Allele Identifier: CA349342582

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664987T>A (hg19) ; chr2:g.174800259T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800259T>A , CM000664.2:g.174800259T>A	GRCh38
NC_000002.11:g.175664987T>A , CM000664.1:g.175664987T>A	GRCh37
NC_000002.10:g.175373233T>A	NCBI36
NG_012642.1:g.210184A>T
NG_012642.2:g.210184A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.862A>T	ENSP00000295497.7:p.Met288Leu
ENST00000295497.12:c.862A>T	ENSP00000295497.7:p.Met288Leu
ENST00000409900.9:c.1237A>T MANE Select	ENSP00000386741.4:p.Met413Leu
ENST00000413882.6:c.691A>T	ENSP00000410496.2:p.Met231Leu
ENST00000443238.6:c.715A>T	ENSP00000409798.2:p.Met239Leu
ENST00000488080.6:n.880A>T
ENST00000650731.1:c.562A>T	ENSP00000499146.1:p.Met188Leu
ENST00000650938.1:c.623A>T
ENST00000651246.1:c.829A>T	ENSP00000498484.1:p.Met277Leu
ENST00000651501.1:c.*684A>T	ENSP00000498894.1:n.*684A>T
ENST00000651717.1:c.*513A>T	ENSP00000499124.1:n.*513A>T
ENST00000652036.1:c.913A>T	ENSP00000499139.1:p.Met305Leu
ENST00000295497.11:c.862A>T	ENSP00000295497.7:p.Met288Leu
ENST00000409156.7:c.1159A>T	ENSP00000386470.3:p.Met387Leu
ENST00000409597.5:c.685A>T	ENSP00000386469.1:p.Met229Leu
ENST00000409900.7:c.1237A>T	ENSP00000386741.3:p.Met413Leu
ENST00000488080.5:n.1088A>T
ENST00000492964.1:n.380A>T
NM_001025201.3:c.1159A>T	NP_001020372.2:p.Met387Leu
NM_001206602.1:c.862A>T	NP_001193531.1:p.Met288Leu
NM_001822.5:c.1237A>T	NP_001813.1:p.Met413Leu
NR_038133.1:n.1103A>T
NM_001025201.4:c.1159A>T	NP_001020372.2:p.Met387Leu
NM_001206602.2:c.862A>T	NP_001193531.1:p.Met288Leu
NM_001371513.1:c.1237A>T	NP_001358442.1:p.Met413Leu
NM_001371514.1:c.1288A>T	NP_001358443.1:p.Met430Leu
NM_001822.7:c.1237A>T MANE Select	NP_001813.1:p.Met413Leu
NR_038133.2:n.1105A>T