Canonical Allele Identifier: CA345931947

Gene: MYCN

Linked Data

• dbSNP Id: rs1485042147
• gnomAD v2: 2-16085775-G-C
• gnomAD v4: 2-15945653-G-C
• MyVariant Identifiers: chr2:g.16085775G>C (hg19) ; chr2:g.15945653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945653G>C , CM000664.2:g.15945653G>C	GRCh38
NC_000002.11:g.16085775G>C , CM000664.1:g.16085775G>C	GRCh37
NC_000002.10:g.16003226G>C	NCBI36
NG_007457.1:g.10093G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.300G>C
ENST00000281043.4:c.951G>C MANE Select	ENSP00000281043.3:p.Glu317Asp
ENST00000638417.1:c.318G>C	ENSP00000491476.1:p.Glu106Asp
ENST00000281043.3:c.951G>C	ENSP00000281043.3:p.Glu317Asp
NM_001293228.1:c.951G>C	NP_001280157.1:p.Glu317Asp
NM_001293231.1:c.318G>C	NP_001280160.1:p.Glu106Asp
NM_001293233.1:c.*886G>C	NP_001280162.1:n.*886G>C
NM_005378.5:c.951G>C	NP_005369.2:p.Glu317Asp
NM_005378.6:c.951G>C MANE Select	NP_005369.2:p.Glu317Asp
NM_001293228.2:c.951G>C	NP_001280157.1:p.Glu317Asp
NM_001293231.2:c.318G>C	NP_001280160.1:p.Glu106Asp
NM_001293233.2:c.*886G>C	NP_001280162.1:n.*886G>C