Canonical Allele Identifier: CA992819341
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs138628176
gnomAD v3: 19-4095191-C-G
gnomAD v4: 19-4095191-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4095191C>G , CM000681.2:g.4095191C>G GRCh38
NC_000019.9:g.4095189C>G , CM000681.1:g.4095189C>G GRCh37
NC_000019.8:g.4046189C>G NCBI36
NG_007996.1:g.33938G>C , LRG_750:g.33938G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1485+197G>C
ENST00000688002.1:n.3197+197G>C
ENST00000688751.1:n.182+197G>C
ENST00000689792.1:n.950+197G>C
ENST00000262948.10:c.1046+197G>C MANE Select ENSP00000262948.4:n.1046+197G>C
ENST00000262948.9:c.1046+197G>C ENSP00000262948.3:n.1046+197G>C
ENST00000394867.8:c.755+197G>C ENSP00000378336.1:n.755+197G>C
ENST00000597263.5:n.231+197G>C
ENST00000599021.1:c.156+197G>C
ENST00000600584.5:n.1803G>C
ENST00000601786.5:n.1347+197G>C
NM_030662.3:c.1046+197G>C , LRG_750t1:c.1046+197G>C NP_109587.1:n.1046+197G>C
XM_006722799.2:c.767+197G>C XP_006722862.1:n.767+197G>C
XM_011528133.1:c.476+197G>C XP_011526435.1:n.476+197G>C
XM_017026989.1:c.1047-145G>C XP_016882478.1:n.1047-145G>C
XM_017026990.1:c.768-145G>C XP_016882479.1:n.768-145G>C
NM_030662.4:c.1046+197G>C MANE Select NP_109587.1:n.1046+197G>C