Canonical Allele Identifier: CA403380751
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2040846126
gnomAD v4: 19-4090627-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090627G>A , CM000681.2:g.4090627G>A GRCh38
NC_000019.9:g.4090625G>A , CM000681.1:g.4090625G>A GRCh37
NC_000019.8:g.4041625G>A NCBI36
NG_007996.1:g.38502C>T , LRG_750:g.38502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1613C>T
ENST00000688002.1:n.3325C>T
ENST00000688751.1:n.310C>T
ENST00000689792.1:n.1078C>T
ENST00000262948.10:c.1174C>T MANE Select ENSP00000262948.4:p.Pro392Ser
ENST00000262948.9:c.1174C>T ENSP00000262948.3:p.Pro392Ser
ENST00000394867.8:c.883C>T ENSP00000378336.1:p.Pro295Ser
ENST00000597263.5:n.359C>T
ENST00000599021.1:c.284C>T
ENST00000600584.5:n.2623C>T
ENST00000601786.5:n.1475C>T
NM_030662.3:c.1174C>T , LRG_750t1:c.1174C>T NP_109587.1:p.Pro392Ser
XM_006722799.2:c.895C>T XP_006722862.1:p.Pro299Ser
XM_011528133.1:c.604C>T XP_011526435.1:p.Pro202Ser
NM_030662.4:c.1174C>T MANE Select NP_109587.1:p.Pro392Ser