Canonical Allele Identifier: CA345931799

Gene: MYCN

Linked Data

• dbSNP Id: rs1202048593
• gnomAD v2: 2-16085700-G-C
• gnomAD v4: 2-15945578-G-C
• MyVariant Identifiers: chr2:g.16085700G>C (hg19) ; chr2:g.15945578G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945578G>C , CM000664.2:g.15945578G>C	GRCh38
NC_000002.11:g.16085700G>C , CM000664.1:g.16085700G>C	GRCh37
NC_000002.10:g.16003151G>C	NCBI36
NG_007457.1:g.10018G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.225G>C
ENST00000281043.4:c.876G>C MANE Select	ENSP00000281043.3:p.Lys292Asn
ENST00000638417.1:c.243G>C	ENSP00000491476.1:p.Lys81Asn
ENST00000281043.3:c.876G>C	ENSP00000281043.3:p.Lys292Asn
NM_001293228.1:c.876G>C	NP_001280157.1:p.Lys292Asn
NM_001293231.1:c.243G>C	NP_001280160.1:p.Lys81Asn
NM_001293233.1:c.*811G>C	NP_001280162.1:n.*811G>C
NM_005378.5:c.876G>C	NP_005369.2:p.Lys292Asn
NM_005378.6:c.876G>C MANE Select	NP_005369.2:p.Lys292Asn
NM_001293228.2:c.876G>C	NP_001280157.1:p.Lys292Asn
NM_001293231.2:c.243G>C	NP_001280160.1:p.Lys81Asn
NM_001293233.2:c.*811G>C	NP_001280162.1:n.*811G>C