Canonical Allele Identifier: CA16043108

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 372632
• ClinVar RCV Id: RCV000413176 ; RCV000458371
• dbSNP Id: rs766540227
• MyVariant Identifiers: chr19:g.4099284G>C (hg19) ; chr19:g.4099286G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099286G>C , CM000681.2:g.4099286G>C	GRCh38
NC_000019.9:g.4099284G>C , CM000681.1:g.4099284G>C	GRCh37
NC_000019.8:g.4050284G>C	NCBI36
NG_007996.1:g.29843C>G , LRG_750:g.29843C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1273C>G
ENST00000687128.1:n.1273C>G
ENST00000688002.1:n.1128C>G
ENST00000689792.1:n.738C>G
ENST00000262948.10:c.834C>G MANE Select	ENSP00000262948.4:p.Ile278Met
ENST00000262948.9:c.834C>G	ENSP00000262948.3:p.Ile278Met
ENST00000394867.8:c.543C>G	ENSP00000378336.1:p.Ile181Met
ENST00000593364.5:n.781C>G
ENST00000595715.1:n.649C>G
ENST00000597263.5:n.169+1733C>G
ENST00000599021.1:c.29+1733C>G
ENST00000600584.5:n.1394C>G
ENST00000601786.5:n.1135C>G
NM_030662.3:c.834C>G , LRG_750t1:c.834C>G	NP_109587.1:p.Ile278Met
XM_006722799.2:c.705+1733C>G	XP_006722862.1:n.705+1733C>G
XM_011528133.1:c.264C>G	XP_011526435.1:p.Ile88Met
XM_017026989.1:c.834C>G	XP_016882478.1:p.Ile278Met
XM_017026990.1:c.705+1733C>G	XP_016882479.1:n.705+1733C>G
NM_030662.4:c.834C>G MANE Select	NP_109587.1:p.Ile278Met