Canonical Allele Identifier: CA403387739

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2450614
• ClinVar RCV Id: RCV003177073
• dbSNP Id: rs761669626
• MyVariant Identifiers: chr19:g.4099375G>C (hg19) ; chr19:g.4099377G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099377G>C , CM000681.2:g.4099377G>C	GRCh38
NC_000019.9:g.4099375G>C , CM000681.1:g.4099375G>C	GRCh37
NC_000019.8:g.4050375G>C	NCBI36
NG_007996.1:g.29752C>G , LRG_750:g.29752C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1182C>G
ENST00000687128.1:n.1182C>G
ENST00000688002.1:n.1037C>G
ENST00000689792.1:n.647C>G
ENST00000262948.10:c.743C>G MANE Select	ENSP00000262948.4:p.Ser248Trp
ENST00000262948.9:c.743C>G	ENSP00000262948.3:p.Ser248Trp
ENST00000394867.8:c.452C>G	ENSP00000378336.1:p.Ser151Trp
ENST00000593364.5:n.690C>G
ENST00000595715.1:n.558C>G
ENST00000597263.5:n.169+1642C>G
ENST00000599021.1:c.29+1642C>G
ENST00000600584.5:n.1303C>G
ENST00000601786.5:n.1044C>G
NM_030662.3:c.743C>G , LRG_750t1:c.743C>G	NP_109587.1:p.Ser248Trp
XM_006722799.2:c.705+1642C>G	XP_006722862.1:n.705+1642C>G
XM_011528133.1:c.173C>G	XP_011526435.1:p.Ser58Trp
XM_017026989.1:c.743C>G	XP_016882478.1:p.Ser248Trp
XM_017026990.1:c.705+1642C>G	XP_016882479.1:n.705+1642C>G
NM_030662.4:c.743C>G MANE Select	NP_109587.1:p.Ser248Trp