Canonical Allele Identifier: CA345932153

Gene: MYCN

Linked Data

• dbSNP Id: rs1241950558
• MyVariant Identifiers: chr2:g.16085868G>C (hg19) ; chr2:g.15945746G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945746G>C , CM000664.2:g.15945746G>C	GRCh38
NC_000002.11:g.16085868G>C , CM000664.1:g.16085868G>C	GRCh37
NC_000002.10:g.16003319G>C	NCBI36
NG_007457.1:g.10186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.393G>C
ENST00000281043.4:c.1044G>C MANE Select	ENSP00000281043.3:p.Lys348Asn
ENST00000638417.1:c.411G>C	ENSP00000491476.1:p.Lys137Asn
ENST00000281043.3:c.1044G>C	ENSP00000281043.3:p.Lys348Asn
NM_001293228.1:c.1044G>C	NP_001280157.1:p.Lys348Asn
NM_001293231.1:c.411G>C	NP_001280160.1:p.Lys137Asn
NM_001293233.1:c.*979G>C	NP_001280162.1:n.*979G>C
NM_005378.5:c.1044G>C	NP_005369.2:p.Lys348Asn
NM_005378.6:c.1044G>C MANE Select	NP_005369.2:p.Lys348Asn
NM_001293228.2:c.1044G>C	NP_001280157.1:p.Lys348Asn
NM_001293231.2:c.411G>C	NP_001280160.1:p.Lys137Asn
NM_001293233.2:c.*979G>C	NP_001280162.1:n.*979G>C