Canonical Allele Identifier: CA403383321

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1416918
• ClinVar RCV Id: RCV001935956 ; RCV004043549
• dbSNP Id: rs2040903643
• gnomAD v3: 19-4095412-T-G
• gnomAD v4: 19-4095412-T-G
• MyVariant Identifiers: chr19:g.4095410T>G (hg19) ; chr19:g.4095412T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095412T>G , CM000681.2:g.4095412T>G	GRCh38
NC_000019.9:g.4095410T>G , CM000681.1:g.4095410T>G	GRCh37
NC_000019.8:g.4046410T>G	NCBI36
NG_007996.1:g.33717A>C , LRG_750:g.33717A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1461A>C
ENST00000688002.1:n.3173A>C
ENST00000688751.1:n.158A>C
ENST00000689792.1:n.926A>C
ENST00000262948.10:c.1022A>C MANE Select	ENSP00000262948.4:p.Asp341Ala
ENST00000262948.9:c.1022A>C	ENSP00000262948.3:p.Asp341Ala
ENST00000394867.8:c.731A>C	ENSP00000378336.1:p.Asp244Ala
ENST00000595715.1:n.837A>C
ENST00000597263.5:n.207A>C
ENST00000599021.1:c.132A>C
ENST00000600584.5:n.1582A>C
ENST00000601786.5:n.1323A>C
NM_030662.3:c.1022A>C , LRG_750t1:c.1022A>C	NP_109587.1:p.Asp341Ala
XM_006722799.2:c.743A>C	XP_006722862.1:p.Asp248Ala
XM_011528133.1:c.452A>C	XP_011526435.1:p.Asp151Ala
XM_017026989.1:c.1022A>C	XP_016882478.1:p.Asp341Ala
XM_017026990.1:c.743A>C	XP_016882479.1:p.Asp248Ala
NM_030662.4:c.1022A>C MANE Select	NP_109587.1:p.Asp341Ala