Canonical Allele Identifier: CA304447522

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1583192
• ClinVar RCV Id: RCV002111401
• dbSNP Id: rs1005472404
• MyVariant Identifiers: chr19:g.4095379C>T (hg19) ; chr19:g.4095381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095381C>T , CM000681.2:g.4095381C>T	GRCh38
NC_000019.9:g.4095379C>T , CM000681.1:g.4095379C>T	GRCh37
NC_000019.8:g.4046379C>T	NCBI36
NG_007996.1:g.33748G>A , LRG_750:g.33748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1485+7G>A
ENST00000688002.1:n.3197+7G>A
ENST00000688751.1:n.182+7G>A
ENST00000689792.1:n.950+7G>A
ENST00000262948.10:c.1046+7G>A MANE Select	ENSP00000262948.4:n.1046+7G>A
ENST00000262948.9:c.1046+7G>A	ENSP00000262948.3:n.1046+7G>A
ENST00000394867.8:c.755+7G>A	ENSP00000378336.1:n.755+7G>A
ENST00000597263.5:n.231+7G>A
ENST00000599021.1:c.156+7G>A
ENST00000600584.5:n.1613G>A
ENST00000601786.5:n.1347+7G>A
NM_030662.3:c.1046+7G>A , LRG_750t1:c.1046+7G>A	NP_109587.1:n.1046+7G>A
XM_006722799.2:c.767+7G>A	XP_006722862.1:n.767+7G>A
XM_011528133.1:c.476+7G>A	XP_011526435.1:n.476+7G>A
XM_017026989.1:c.1046+7G>A	XP_016882478.1:n.1046+7G>A
XM_017026990.1:c.767+7G>A	XP_016882479.1:n.767+7G>A
NM_030662.4:c.1046+7G>A MANE Select	NP_109587.1:n.1046+7G>A