Canonical Allele Identifier: CA425091703

Linked Data

dbSNP Id: rs1484413022
MyVariant Identifiers: chr2:g.16082219C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15942097C>A , CM000664.2:g.15942097C>A GRCh38
NC_000002.11:g.16082219C>A , CM000664.1:g.16082219C>A GRCh37
NC_000002.10:g.15999670C>A NCBI36
NG_007457.1:g.6537C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281043.4:c.33C>A (MYCN) MANE Select ENSP00000281043.3:p.Gly11=
ENST00000638417.1:c.157+1354C>A (MYCN) ENSP00000491476.1:n.157+1354C>A
ENST00000281043.3:c.33C>A (MYCN) ENSP00000281043.3:p.Gly11=
NM_001293228.1:c.33C>A (MYCN) NP_001280157.1:p.Gly11=
NM_001293231.1:c.157+1354C>A (MYCN) NP_001280160.1:n.157+1354C>A
NM_001293233.1:c.307C>A (MYCN) NP_001280162.1:p.His103Asn
NM_005378.5:c.33C>A (MYCN) NP_005369.2:p.Gly11=
NM_001329968.1:c.-234+55G>T (MYCNOS) NP_001316897.1:n.-234+55G>T
XM_024452527.1:c.3G>T (MYCNOS) XP_024308295.1:p.Met1Ile
XM_024452528.1:c.-234+285G>T (MYCNOS) XP_024308296.1:n.-234+285G>T
NM_005378.6:c.33C>A (MYCN) MANE Select NP_005369.2:p.Gly11=
NM_001293228.2:c.33C>A (MYCN) NP_001280157.1:p.Gly11=
NM_001293231.2:c.157+1354C>A (MYCN) NP_001280160.1:n.157+1354C>A
NM_001293233.2:c.307C>A (MYCN) NP_001280162.1:p.His103Asn
NR_161163.1:n.282+55G>T (MYCNOS)