Canonical Allele Identifier: CA345931910

Gene: MYCN

Linked Data

• dbSNP Id: rs1572221054
• gnomAD v4: 2-15945634-G-C
• MyVariant Identifiers: chr2:g.16085756G>C (hg19) ; chr2:g.15945634G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945634G>C , CM000664.2:g.15945634G>C	GRCh38
NC_000002.11:g.16085756G>C , CM000664.1:g.16085756G>C	GRCh37
NC_000002.10:g.16003207G>C	NCBI36
NG_007457.1:g.10074G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.281G>C
ENST00000281043.4:c.932G>C MANE Select	ENSP00000281043.3:p.Gly311Ala
ENST00000638417.1:c.299G>C	ENSP00000491476.1:p.Gly100Ala
ENST00000281043.3:c.932G>C	ENSP00000281043.3:p.Gly311Ala
NM_001293228.1:c.932G>C	NP_001280157.1:p.Gly311Ala
NM_001293231.1:c.299G>C	NP_001280160.1:p.Gly100Ala
NM_001293233.1:c.*867G>C	NP_001280162.1:n.*867G>C
NM_005378.5:c.932G>C	NP_005369.2:p.Gly311Ala
NM_005378.6:c.932G>C MANE Select	NP_005369.2:p.Gly311Ala
NM_001293228.2:c.932G>C	NP_001280157.1:p.Gly311Ala
NM_001293231.2:c.299G>C	NP_001280160.1:p.Gly100Ala
NM_001293233.2:c.*867G>C	NP_001280162.1:n.*867G>C