Canonical Allele Identifier: CA992819365

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040900957
• gnomAD v3: 19-4095288-T-C
• gnomAD v4: 19-4095288-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095288T>C , CM000681.2:g.4095288T>C	GRCh38
NC_000019.9:g.4095286T>C , CM000681.1:g.4095286T>C	GRCh37
NC_000019.8:g.4046286T>C	NCBI36
NG_007996.1:g.33841A>G , LRG_750:g.33841A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1485+100A>G
ENST00000688002.1:n.3197+100A>G
ENST00000688751.1:n.182+100A>G
ENST00000689792.1:n.950+100A>G
ENST00000262948.10:c.1046+100A>G MANE Select	ENSP00000262948.4:n.1046+100A>G
ENST00000262948.9:c.1046+100A>G	ENSP00000262948.3:n.1046+100A>G
ENST00000394867.8:c.755+100A>G	ENSP00000378336.1:n.755+100A>G
ENST00000597263.5:n.231+100A>G
ENST00000599021.1:c.156+100A>G
ENST00000600584.5:n.1706A>G
ENST00000601786.5:n.1347+100A>G
NM_030662.3:c.1046+100A>G , LRG_750t1:c.1046+100A>G	NP_109587.1:n.1046+100A>G
XM_006722799.2:c.767+100A>G	XP_006722862.1:n.767+100A>G
XM_011528133.1:c.476+100A>G	XP_011526435.1:n.476+100A>G
XM_017026989.1:c.1046+100A>G	XP_016882478.1:n.1046+100A>G
XM_017026990.1:c.767+100A>G	XP_016882479.1:n.767+100A>G
NM_030662.4:c.1046+100A>G MANE Select	NP_109587.1:n.1046+100A>G