Canonical Allele Identifier: CA1538280

Gene: MYCN

Linked Data

• dbSNP Id: rs370751156
• ExAC: 2:16085746 C / T
• gnomAD v2: 2-16085746-C-T
• gnomAD v3: 2-15945624-C-T
• gnomAD v4: 2-15945624-C-T
• MyVariant Identifiers: chr2:g.16085746C>T (hg19) ; chr2:g.15945624C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945624C>T , CM000664.2:g.15945624C>T	GRCh38
NC_000002.11:g.16085746C>T , CM000664.1:g.16085746C>T	GRCh37
NC_000002.10:g.16003197C>T	NCBI36
NG_007457.1:g.10064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.271C>T
ENST00000281043.4:c.922C>T MANE Select	ENSP00000281043.3:p.Leu308=
ENST00000638417.1:c.289C>T	ENSP00000491476.1:p.Leu97=
ENST00000281043.3:c.922C>T	ENSP00000281043.3:p.Leu308=
NM_001293228.1:c.922C>T	NP_001280157.1:p.Leu308=
NM_001293231.1:c.289C>T	NP_001280160.1:p.Leu97=
NM_001293233.1:c.*857C>T	NP_001280162.1:n.*857C>T
NM_005378.5:c.922C>T	NP_005369.2:p.Leu308=
NM_005378.6:c.922C>T MANE Select	NP_005369.2:p.Leu308=
NM_001293228.2:c.922C>T	NP_001280157.1:p.Leu308=
NM_001293231.2:c.289C>T	NP_001280160.1:p.Leu97=
NM_001293233.2:c.*857C>T	NP_001280162.1:n.*857C>T