Canonical Allele Identifier: CA425092562

Gene: MYCN

Linked Data

• ClinVar Variation Id: 772788
• ClinVar RCV Id: RCV000952424
• dbSNP Id: rs1414236959
• gnomAD v2: 2-16085817-C-T
• gnomAD v3: 2-15945695-C-T
• gnomAD v4: 2-15945695-C-T
• MyVariant Identifiers: chr2:g.16085817C>T (hg19) ; chr2:g.15945695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945695C>T , CM000664.2:g.15945695C>T	GRCh38
NC_000002.11:g.16085817C>T , CM000664.1:g.16085817C>T	GRCh37
NC_000002.10:g.16003268C>T	NCBI36
NG_007457.1:g.10135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.342C>T
ENST00000281043.4:c.993C>T MANE Select	ENSP00000281043.3:p.Asn331=
ENST00000638417.1:c.360C>T	ENSP00000491476.1:p.Asn120=
ENST00000281043.3:c.993C>T	ENSP00000281043.3:p.Asn331=
NM_001293228.1:c.993C>T	NP_001280157.1:p.Asn331=
NM_001293231.1:c.360C>T	NP_001280160.1:p.Asn120=
NM_001293233.1:c.*928C>T	NP_001280162.1:n.*928C>T
NM_005378.5:c.993C>T	NP_005369.2:p.Asn331=
NM_005378.6:c.993C>T MANE Select	NP_005369.2:p.Asn331=
NM_001293228.2:c.993C>T	NP_001280157.1:p.Asn331=
NM_001293231.2:c.360C>T	NP_001280160.1:p.Asn120=
NM_001293233.2:c.*928C>T	NP_001280162.1:n.*928C>T