Canonical Allele Identifier: CA1538283

Gene: MYCN

Linked Data

• dbSNP Id: rs200236475
• ExAC: 2:16085759 G / C
• gnomAD v2: 2-16085759-G-C
• gnomAD v3: 2-15945637-G-C
• gnomAD v4: 2-15945637-G-C
• MyVariant Identifiers: chr2:g.16085759G>C (hg19) ; chr2:g.15945637G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945637G>C , CM000664.2:g.15945637G>C	GRCh38
NC_000002.11:g.16085759G>C , CM000664.1:g.16085759G>C	GRCh37
NC_000002.10:g.16003210G>C	NCBI36
NG_007457.1:g.10077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.284G>C
ENST00000281043.4:c.935G>C MANE Select	ENSP00000281043.3:p.Arg312Thr
ENST00000638417.1:c.302G>C	ENSP00000491476.1:p.Arg101Thr
ENST00000281043.3:c.935G>C	ENSP00000281043.3:p.Arg312Thr
NM_001293228.1:c.935G>C	NP_001280157.1:p.Arg312Thr
NM_001293231.1:c.302G>C	NP_001280160.1:p.Arg101Thr
NM_001293233.1:c.*870G>C	NP_001280162.1:n.*870G>C
NM_005378.5:c.935G>C	NP_005369.2:p.Arg312Thr
NM_005378.6:c.935G>C MANE Select	NP_005369.2:p.Arg312Thr
NM_001293228.2:c.935G>C	NP_001280157.1:p.Arg312Thr
NM_001293231.2:c.302G>C	NP_001280160.1:p.Arg101Thr
NM_001293233.2:c.*870G>C	NP_001280162.1:n.*870G>C