Canonical Allele Identifier: CA2584877033
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094592-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094592G>A , CM000681.2:g.4094592G>A GRCh38
NC_000019.9:g.4094590G>A , CM000681.1:g.4094590G>A GRCh37
NC_000019.8:g.4045590G>A NCBI36
NG_007996.1:g.34537C>T , LRG_750:g.34537C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1486-94C>T
ENST00000688002.1:n.3198-94C>T
ENST00000688751.1:n.183-94C>T
ENST00000689792.1:n.951-94C>T
ENST00000262948.10:c.1047-94C>T MANE Select ENSP00000262948.4:n.1047-94C>T
ENST00000262948.9:c.1047-94C>T ENSP00000262948.3:n.1047-94C>T
ENST00000394867.8:c.756-94C>T ENSP00000378336.1:n.756-94C>T
ENST00000597263.5:n.232-94C>T
ENST00000599021.1:c.157-94C>T
ENST00000600584.5:n.2402C>T
ENST00000601786.5:n.1348-94C>T
NM_030662.3:c.1047-94C>T , LRG_750t1:c.1047-94C>T NP_109587.1:n.1047-94C>T
XM_006722799.2:c.768-94C>T XP_006722862.1:n.768-94C>T
XM_011528133.1:c.477-94C>T XP_011526435.1:n.477-94C>T
XM_017026989.1:c.1501C>T XP_016882478.1:p.Pro501Ser
XM_017026990.1:c.1222C>T XP_016882479.1:p.Pro408Ser
NM_030662.4:c.1047-94C>T MANE Select NP_109587.1:n.1047-94C>T