Canonical Allele Identifier: CA2584877171
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094716-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094716A>G , CM000681.2:g.4094716A>G GRCh38
NC_000019.9:g.4094714A>G , CM000681.1:g.4094714A>G GRCh37
NC_000019.8:g.4045714A>G NCBI36
NG_007996.1:g.34413T>C , LRG_750:g.34413T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1486-218T>C
ENST00000688002.1:n.3198-218T>C
ENST00000688751.1:n.183-218T>C
ENST00000689792.1:n.951-218T>C
ENST00000262948.10:c.1047-218T>C MANE Select ENSP00000262948.4:n.1047-218T>C
ENST00000262948.9:c.1047-218T>C ENSP00000262948.3:n.1047-218T>C
ENST00000394867.8:c.756-218T>C ENSP00000378336.1:n.756-218T>C
ENST00000597263.5:n.232-218T>C
ENST00000599021.1:c.157-218T>C
ENST00000600584.5:n.2278T>C
ENST00000601786.5:n.1348-218T>C
NM_030662.3:c.1047-218T>C , LRG_750t1:c.1047-218T>C NP_109587.1:n.1047-218T>C
XM_006722799.2:c.768-218T>C XP_006722862.1:n.768-218T>C
XM_011528133.1:c.477-218T>C XP_011526435.1:n.477-218T>C
XM_017026989.1:c.1377T>C XP_016882478.1:p.Ala459=
XM_017026990.1:c.1098T>C XP_016882479.1:p.Ala366=
NM_030662.4:c.1047-218T>C MANE Select NP_109587.1:n.1047-218T>C