Canonical Allele Identifier: CA345932377

Gene: MYCN

Linked Data

• MyVariant Identifiers: chr2:g.16085972G>T (hg19) ; chr2:g.15945850G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945850G>T , CM000664.2:g.15945850G>T	GRCh38
NC_000002.11:g.16085972G>T , CM000664.1:g.16085972G>T	GRCh37
NC_000002.10:g.16003423G>T	NCBI36
NG_007457.1:g.10290G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703162.1:n.497G>T
ENST00000281043.4:c.1148G>T MANE Select	ENSP00000281043.3:p.Arg383Leu
ENST00000638417.1:c.515G>T	ENSP00000491476.1:p.Arg172Leu
ENST00000281043.3:c.1148G>T	ENSP00000281043.3:p.Arg383Leu
NM_001293228.1:c.1148G>T	NP_001280157.1:p.Arg383Leu
NM_001293231.1:c.515G>T	NP_001280160.1:p.Arg172Leu
NM_001293233.1:c.*1083G>T	NP_001280162.1:n.*1083G>T
NM_005378.5:c.1148G>T	NP_005369.2:p.Arg383Leu
NM_005378.6:c.1148G>T MANE Select	NP_005369.2:p.Arg383Leu
NM_001293228.2:c.1148G>T	NP_001280157.1:p.Arg383Leu
NM_001293231.2:c.515G>T	NP_001280160.1:p.Arg172Leu
NM_001293233.2:c.*1083G>T	NP_001280162.1:n.*1083G>T