Canonical Allele Identifier: CA425091875

Linked Data

MyVariant Identifiers: chr2:g.16082321G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15942199G>C , CM000664.2:g.15942199G>C GRCh38
NC_000002.11:g.16082321G>C , CM000664.1:g.16082321G>C GRCh37
NC_000002.10:g.15999772G>C NCBI36
NG_007457.1:g.6639G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000281043.4:c.135G>C (MYCN) MANE Select ENSP00000281043.3:p.Pro45=
ENST00000638417.1:c.157+1456G>C (MYCN) ENSP00000491476.1:n.157+1456G>C
ENST00000281043.3:c.135G>C (MYCN) ENSP00000281043.3:p.Pro45=
NM_001293228.1:c.135G>C (MYCN) NP_001280157.1:p.Pro45=
NM_001293231.1:c.157+1456G>C (MYCN) NP_001280160.1:n.157+1456G>C
NM_001293233.1:c.*70G>C (MYCN) NP_001280162.1:n.*70G>C
NM_005378.5:c.135G>C (MYCN) NP_005369.2:p.Pro45=
NM_001329968.1:c.-281C>G (MYCNOS) NP_001316897.1:n.-281C>G
XM_024452528.1:c.-234+183C>G (MYCNOS) XP_024308296.1:n.-234+183C>G
NM_005378.6:c.135G>C (MYCN) MANE Select NP_005369.2:p.Pro45=
NM_001293228.2:c.135G>C (MYCN) NP_001280157.1:p.Pro45=
NM_001293231.2:c.157+1456G>C (MYCN) NP_001280160.1:n.157+1456G>C
NM_001293233.2:c.*70G>C (MYCN) NP_001280162.1:n.*70G>C
NR_161163.1:n.235C>G (MYCNOS)