Canonical Allele Identifier: CA2319221820
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2040890867
gnomAD v4: 19-4094706-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094706G>A , CM000681.2:g.4094706G>A GRCh38
NC_000019.9:g.4094704G>A , CM000681.1:g.4094704G>A GRCh37
NC_000019.8:g.4045704G>A NCBI36
NG_007996.1:g.34423C>T , LRG_750:g.34423C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1486-208C>T
ENST00000688002.1:n.3198-208C>T
ENST00000688751.1:n.183-208C>T
ENST00000689792.1:n.951-208C>T
ENST00000262948.10:c.1047-208C>T MANE Select ENSP00000262948.4:n.1047-208C>T
ENST00000262948.9:c.1047-208C>T ENSP00000262948.3:n.1047-208C>T
ENST00000394867.8:c.756-208C>T ENSP00000378336.1:n.756-208C>T
ENST00000597263.5:n.232-208C>T
ENST00000599021.1:c.157-208C>T
ENST00000600584.5:n.2288C>T
ENST00000601786.5:n.1348-208C>T
NM_030662.3:c.1047-208C>T , LRG_750t1:c.1047-208C>T NP_109587.1:n.1047-208C>T
XM_006722799.2:c.768-208C>T XP_006722862.1:n.768-208C>T
XM_011528133.1:c.477-208C>T XP_011526435.1:n.477-208C>T
XM_017026989.1:c.1387C>T XP_016882478.1:p.Pro463Ser
XM_017026990.1:c.1108C>T XP_016882479.1:p.Pro370Ser
NM_030662.4:c.1047-208C>T MANE Select NP_109587.1:n.1047-208C>T