Canonical Allele Identifier: CA403383453

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4095441G>C (hg19) ; chr19:g.4095443G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095443G>C , CM000681.2:g.4095443G>C	GRCh38
NC_000019.9:g.4095441G>C , CM000681.1:g.4095441G>C	GRCh37
NC_000019.8:g.4046441G>C	NCBI36
NG_007996.1:g.33686C>G , LRG_750:g.33686C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1430C>G
ENST00000688002.1:n.3142C>G
ENST00000688751.1:n.127C>G
ENST00000689792.1:n.895C>G
ENST00000262948.10:c.991C>G MANE Select	ENSP00000262948.4:p.Pro331Ala
ENST00000262948.9:c.991C>G	ENSP00000262948.3:p.Pro331Ala
ENST00000394867.8:c.700C>G	ENSP00000378336.1:p.Pro234Ala
ENST00000595715.1:n.806C>G
ENST00000597263.5:n.176C>G
ENST00000599021.1:c.101C>G
ENST00000600584.5:n.1551C>G
ENST00000601786.5:n.1292C>G
NM_030662.3:c.991C>G , LRG_750t1:c.991C>G	NP_109587.1:p.Pro331Ala
XM_006722799.2:c.712C>G	XP_006722862.1:p.Pro238Ala
XM_011528133.1:c.421C>G	XP_011526435.1:p.Pro141Ala
XM_017026989.1:c.991C>G	XP_016882478.1:p.Pro331Ala
XM_017026990.1:c.712C>G	XP_016882479.1:p.Pro238Ala
NM_030662.4:c.991C>G MANE Select	NP_109587.1:p.Pro331Ala