Canonical Allele Identifier: CA1538110

Gene: MYCN MYCNOS

Linked Data

• dbSNP Id: rs776147637
• ExAC: 2:16082221 T / C
• gnomAD v2: 2-16082221-T-C
• gnomAD v4: 2-15942099-T-C
• MyVariant Identifiers: chr2:g.16082221T>C (hg19) ; chr2:g.15942099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15942099T>C , CM000664.2:g.15942099T>C	GRCh38
NC_000002.11:g.16082221T>C , CM000664.1:g.16082221T>C	GRCh37
NC_000002.10:g.15999672T>C	NCBI36
NG_007457.1:g.6539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281043.4:c.35T>C (MYCN) MANE Select	ENSP00000281043.3:p.Met12Thr
ENST00000638417.1:c.157+1356T>C (MYCN)	ENSP00000491476.1:n.157+1356T>C
ENST00000281043.3:c.35T>C (MYCN)	ENSP00000281043.3:p.Met12Thr
NM_001293228.1:c.35T>C (MYCN)	NP_001280157.1:p.Met12Thr
NM_001293231.1:c.157+1356T>C (MYCN)	NP_001280160.1:n.157+1356T>C
NM_001293233.1:c.309T>C (MYCN)	NP_001280162.1:p.His103=
NM_005378.5:c.35T>C (MYCN)	NP_005369.2:p.Met12Thr
NM_001329968.1:c.-234+53A>G (MYCNOS)	NP_001316897.1:n.-234+53A>G
XM_024452527.1:c.1A>G (MYCNOS)	XP_024308295.1:p.Met1Val
XM_024452528.1:c.-234+283A>G (MYCNOS)	XP_024308296.1:n.-234+283A>G
NM_005378.6:c.35T>C (MYCN) MANE Select	NP_005369.2:p.Met12Thr
NM_001293228.2:c.35T>C (MYCN)	NP_001280157.1:p.Met12Thr
NM_001293231.2:c.157+1356T>C (MYCN)	NP_001280160.1:n.157+1356T>C
NM_001293233.2:c.309T>C (MYCN)	NP_001280162.1:p.His103=
NR_161163.1:n.282+53A>G (MYCNOS)