Canonical Allele Identifier: CA304447068
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs953687366
gnomAD v3: 19-4094376-G-A
gnomAD v4: 19-4094376-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094376G>A , CM000681.2:g.4094376G>A GRCh38
NC_000019.9:g.4094374G>A , CM000681.1:g.4094374G>A GRCh37
NC_000019.8:g.4045374G>A NCBI36
NG_007996.1:g.34753C>T , LRG_750:g.34753C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1531+77C>T
ENST00000688002.1:n.3243+77C>T
ENST00000688751.1:n.228+77C>T
ENST00000689792.1:n.996+77C>T
ENST00000262948.10:c.1092+77C>T MANE Select ENSP00000262948.4:n.1092+77C>T
ENST00000262948.9:c.1092+77C>T ENSP00000262948.3:n.1092+77C>T
ENST00000394867.8:c.801+77C>T ENSP00000378336.1:n.801+77C>T
ENST00000597263.5:n.277+77C>T
ENST00000599021.1:c.202+77C>T
ENST00000600584.5:n.2541+77C>T
ENST00000601786.5:n.1393+77C>T
NM_030662.3:c.1092+77C>T , LRG_750t1:c.1092+77C>T NP_109587.1:n.1092+77C>T
XM_006722799.2:c.813+77C>T XP_006722862.1:n.813+77C>T
XM_011528133.1:c.522+77C>T XP_011526435.1:n.522+77C>T
NM_030662.4:c.1092+77C>T MANE Select NP_109587.1:n.1092+77C>T