Canonical Allele Identifier: CA1538330

Gene: MYCN

Linked Data

• dbSNP Id: rs776128676
• ExAC: 2:16086015 T / C
• gnomAD v2: 2-16086015-T-C
• gnomAD v4: 2-15945893-T-C
• MyVariant Identifiers: chr2:g.16086015T>C (hg19) ; chr2:g.15945893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945893T>C , CM000664.2:g.15945893T>C	GRCh38
NC_000002.11:g.16086015T>C , CM000664.1:g.16086015T>C	GRCh37
NC_000002.10:g.16003466T>C	NCBI36
NG_007457.1:g.10333T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.540T>C
ENST00000281043.4:c.1191T>C MANE Select	ENSP00000281043.3:p.Leu397=
ENST00000638417.1:c.558T>C	ENSP00000491476.1:p.Leu186=
ENST00000281043.3:c.1191T>C	ENSP00000281043.3:p.Leu397=
NM_001293228.1:c.1191T>C	NP_001280157.1:p.Leu397=
NM_001293231.1:c.558T>C	NP_001280160.1:p.Leu186=
NM_001293233.1:c.*1126T>C	NP_001280162.1:n.*1126T>C
NM_005378.5:c.1191T>C	NP_005369.2:p.Leu397=
NM_005378.6:c.1191T>C MANE Select	NP_005369.2:p.Leu397=
NM_001293228.2:c.1191T>C	NP_001280157.1:p.Leu397=
NM_001293231.2:c.558T>C	NP_001280160.1:p.Leu186=
NM_001293233.2:c.*1126T>C	NP_001280162.1:n.*1126T>C