Canonical Allele Identifier: CA2584877153
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094699-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094699G>C , CM000681.2:g.4094699G>C GRCh38
NC_000019.9:g.4094697G>C , CM000681.1:g.4094697G>C GRCh37
NC_000019.8:g.4045697G>C NCBI36
NG_007996.1:g.34430C>G , LRG_750:g.34430C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1486-201C>G
ENST00000688002.1:n.3198-201C>G
ENST00000688751.1:n.183-201C>G
ENST00000689792.1:n.951-201C>G
ENST00000262948.10:c.1047-201C>G MANE Select ENSP00000262948.4:n.1047-201C>G
ENST00000262948.9:c.1047-201C>G ENSP00000262948.3:n.1047-201C>G
ENST00000394867.8:c.756-201C>G ENSP00000378336.1:n.756-201C>G
ENST00000597263.5:n.232-201C>G
ENST00000599021.1:c.157-201C>G
ENST00000600584.5:n.2295C>G
ENST00000601786.5:n.1348-201C>G
NM_030662.3:c.1047-201C>G , LRG_750t1:c.1047-201C>G NP_109587.1:n.1047-201C>G
XM_006722799.2:c.768-201C>G XP_006722862.1:n.768-201C>G
XM_011528133.1:c.477-201C>G XP_011526435.1:n.477-201C>G
XM_017026989.1:c.1394C>G XP_016882478.1:p.Pro465Arg
XM_017026990.1:c.1115C>G XP_016882479.1:p.Pro372Arg
NM_030662.4:c.1047-201C>G MANE Select NP_109587.1:n.1047-201C>G