Canonical Allele Identifier: CA504986733
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs374119774
MyVariant Identifiers: chr19:g.4099308G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099310G>C , CM000681.2:g.4099310G>C GRCh38
NC_000019.9:g.4099308G>C , CM000681.1:g.4099308G>C GRCh37
NC_000019.8:g.4050308G>C NCBI36
NG_007996.1:g.29819C>G , LRG_750:g.29819C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1249C>G
ENST00000687128.1:n.1249C>G
ENST00000688002.1:n.1104C>G
ENST00000689792.1:n.714C>G
ENST00000262948.10:c.810C>G MANE Select ENSP00000262948.4:p.Pro270=
ENST00000262948.9:c.810C>G ENSP00000262948.3:p.Pro270=
ENST00000394867.8:c.519C>G ENSP00000378336.1:p.Pro173=
ENST00000593364.5:n.757C>G
ENST00000595715.1:n.625C>G
ENST00000597263.5:n.169+1709C>G
ENST00000599021.1:c.29+1709C>G
ENST00000600584.5:n.1370C>G
ENST00000601786.5:n.1111C>G
NM_030662.3:c.810C>G , LRG_750t1:c.810C>G NP_109587.1:p.Pro270=
XM_006722799.2:c.705+1709C>G XP_006722862.1:n.705+1709C>G
XM_011528133.1:c.240C>G XP_011526435.1:p.Pro80=
XM_017026989.1:c.810C>G XP_016882478.1:p.Pro270=
XM_017026990.1:c.705+1709C>G XP_016882479.1:n.705+1709C>G
NM_030662.4:c.810C>G MANE Select NP_109587.1:p.Pro270=