Canonical Allele Identifier: CA345931710

Gene: MYCN

Linked Data

• dbSNP Id: rs201115523
• gnomAD v4: 2-15945534-G-C
• MyVariant Identifiers: chr2:g.16085656G>C (hg19) ; chr2:g.15945534G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945534G>C , CM000664.2:g.15945534G>C	GRCh38
NC_000002.11:g.16085656G>C , CM000664.1:g.16085656G>C	GRCh37
NC_000002.10:g.16003107G>C	NCBI36
NG_007457.1:g.9974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.181G>C
ENST00000281043.4:c.832G>C MANE Select	ENSP00000281043.3:p.Asp278His
ENST00000638417.1:c.199G>C	ENSP00000491476.1:p.Asp67His
ENST00000281043.3:c.832G>C	ENSP00000281043.3:p.Asp278His
NM_001293228.1:c.832G>C	NP_001280157.1:p.Asp278His
NM_001293231.1:c.199G>C	NP_001280160.1:p.Asp67His
NM_001293233.1:c.*767G>C	NP_001280162.1:n.*767G>C
NM_005378.5:c.832G>C	NP_005369.2:p.Asp278His
NM_005378.6:c.832G>C MANE Select	NP_005369.2:p.Asp278His
NM_001293228.2:c.832G>C	NP_001280157.1:p.Asp278His
NM_001293231.2:c.199G>C	NP_001280160.1:p.Asp67His
NM_001293233.2:c.*767G>C	NP_001280162.1:n.*767G>C