Canonical Allele Identifier: CA2584877041
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094600-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094600G>A , CM000681.2:g.4094600G>A GRCh38
NC_000019.9:g.4094598G>A , CM000681.1:g.4094598G>A GRCh37
NC_000019.8:g.4045598G>A NCBI36
NG_007996.1:g.34529C>T , LRG_750:g.34529C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1486-102C>T
ENST00000688002.1:n.3198-102C>T
ENST00000688751.1:n.183-102C>T
ENST00000689792.1:n.951-102C>T
ENST00000262948.10:c.1047-102C>T MANE Select ENSP00000262948.4:n.1047-102C>T
ENST00000262948.9:c.1047-102C>T ENSP00000262948.3:n.1047-102C>T
ENST00000394867.8:c.756-102C>T ENSP00000378336.1:n.756-102C>T
ENST00000597263.5:n.232-102C>T
ENST00000599021.1:c.157-102C>T
ENST00000600584.5:n.2394C>T
ENST00000601786.5:n.1348-102C>T
NM_030662.3:c.1047-102C>T , LRG_750t1:c.1047-102C>T NP_109587.1:n.1047-102C>T
XM_006722799.2:c.768-102C>T XP_006722862.1:n.768-102C>T
XM_011528133.1:c.477-102C>T XP_011526435.1:n.477-102C>T
XM_017026989.1:c.1493C>T XP_016882478.1:p.Pro498Leu
XM_017026990.1:c.1214C>T XP_016882479.1:p.Pro405Leu
NM_030662.4:c.1047-102C>T MANE Select NP_109587.1:n.1047-102C>T