Canonical Allele Identifier: CA345932084

Gene: MYCN

Linked Data

• dbSNP Id: rs1269408510
• gnomAD v2: 2-16085837-A-C
• gnomAD v3: 2-15945715-A-C
• gnomAD v4: 2-15945715-A-C
• MyVariant Identifiers: chr2:g.16085837A>C (hg19) ; chr2:g.15945715A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945715A>C , CM000664.2:g.15945715A>C	GRCh38
NC_000002.11:g.16085837A>C , CM000664.1:g.16085837A>C	GRCh37
NC_000002.10:g.16003288A>C	NCBI36
NG_007457.1:g.10155A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.362A>C
ENST00000281043.4:c.1013A>C MANE Select	ENSP00000281043.3:p.Tyr338Ser
ENST00000638417.1:c.380A>C	ENSP00000491476.1:p.Tyr127Ser
ENST00000281043.3:c.1013A>C	ENSP00000281043.3:p.Tyr338Ser
NM_001293228.1:c.1013A>C	NP_001280157.1:p.Tyr338Ser
NM_001293231.1:c.380A>C	NP_001280160.1:p.Tyr127Ser
NM_001293233.1:c.*948A>C	NP_001280162.1:n.*948A>C
NM_005378.5:c.1013A>C	NP_005369.2:p.Tyr338Ser
NM_005378.6:c.1013A>C MANE Select	NP_005369.2:p.Tyr338Ser
NM_001293228.2:c.1013A>C	NP_001280157.1:p.Tyr338Ser
NM_001293231.2:c.380A>C	NP_001280160.1:p.Tyr127Ser
NM_001293233.2:c.*948A>C	NP_001280162.1:n.*948A>C