Canonical Allele Identifier: CA504984465
Gene: MAP2K2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.4094493G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094495G>C , CM000681.2:g.4094495G>C GRCh38
NC_000019.9:g.4094493G>C , CM000681.1:g.4094493G>C GRCh37
NC_000019.8:g.4045493G>C NCBI36
NG_007996.1:g.34634C>G , LRG_750:g.34634C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1489C>G
ENST00000688002.1:n.3201C>G
ENST00000688751.1:n.186C>G
ENST00000689792.1:n.954C>G
ENST00000262948.10:c.1050C>G MANE Select ENSP00000262948.4:p.Leu350=
ENST00000262948.9:c.1050C>G ENSP00000262948.3:p.Leu350=
ENST00000394867.8:c.759C>G ENSP00000378336.1:p.Leu253=
ENST00000597263.5:n.235C>G
ENST00000599021.1:c.160C>G
ENST00000600584.5:n.2499C>G
ENST00000601786.5:n.1351C>G
NM_030662.3:c.1050C>G , LRG_750t1:c.1050C>G NP_109587.1:p.Leu350=
XM_006722799.2:c.771C>G XP_006722862.1:p.Leu257=
XM_011528133.1:c.480C>G XP_011526435.1:p.Leu160=
NM_030662.4:c.1050C>G MANE Select NP_109587.1:p.Leu350=