Canonical Allele Identifier: CA304449069
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs896335040
gnomAD v2: 19-4098990-C-T
gnomAD v3: 19-4098992-C-T
gnomAD v4: 19-4098992-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4098992C>T , CM000681.2:g.4098992C>T GRCh38
NC_000019.9:g.4098990C>T , CM000681.1:g.4098990C>T GRCh37
NC_000019.8:g.4049990C>T NCBI36
NG_007996.1:g.30137G>A , LRG_750:g.30137G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1358+209G>A
ENST00000687128.1:n.1567G>A
ENST00000688002.1:n.1422G>A
ENST00000689792.1:n.823+209G>A
ENST00000262948.10:c.919+209G>A MANE Select ENSP00000262948.4:n.919+209G>A
ENST00000262948.9:c.919+209G>A ENSP00000262948.3:n.919+209G>A
ENST00000394867.8:c.628+209G>A ENSP00000378336.1:n.628+209G>A
ENST00000595715.1:n.734+209G>A
ENST00000597263.5:n.169+2027G>A
ENST00000599021.1:c.30-1649G>A
ENST00000600584.5:n.1479+209G>A
ENST00000601786.5:n.1220+209G>A
NM_030662.3:c.919+209G>A , LRG_750t1:c.919+209G>A NP_109587.1:n.919+209G>A
XM_006722799.2:c.705+2027G>A XP_006722862.1:n.705+2027G>A
XM_011528133.1:c.349+209G>A XP_011526435.1:n.349+209G>A
XM_017026989.1:c.919+209G>A XP_016882478.1:n.919+209G>A
XM_017026990.1:c.705+2027G>A XP_016882479.1:n.705+2027G>A
NM_030662.4:c.919+209G>A MANE Select NP_109587.1:n.919+209G>A