Canonical Allele Identifier: CA16620850

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 418790
• ClinVar RCV Id: RCV000485520
• dbSNP Id: rs1064793436
• MyVariant Identifiers: chr19:g.4099218_4099219insA (hg19) ; chr19:g.4099220_4099221insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099220_4099221insA , CM000681.2:g.4099220_4099221insA	GRCh38
NC_000019.9:g.4099218_4099219insA , CM000681.1:g.4099218_4099219insA	GRCh37
NC_000019.8:g.4050218_4050219insA	NCBI36
NG_007996.1:g.29908_29909insT , LRG_750:g.29908_29909insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1338_1339insT
ENST00000687128.1:n.1338_1339insT
ENST00000688002.1:n.1193_1194insT
ENST00000689792.1:n.803_804insT
ENST00000262948.10:c.899_900insT MANE Select	ENSP00000262948.4:p.Gly302ArgfsTer11
ENST00000262948.9:c.899_900insT	ENSP00000262948.3:p.Gly302ArgfsTer11
ENST00000394867.8:c.608_609insT	ENSP00000378336.1:p.Gly205ArgfsTer11
ENST00000593364.5:n.846_847insT
ENST00000595715.1:n.714_715insT
ENST00000597263.5:n.169+1798_169+1799insT
ENST00000599021.1:c.29+1798_29+1799insT
ENST00000600584.5:n.1459_1460insT
ENST00000601786.5:n.1200_1201insT
NM_030662.3:c.899_900insT , LRG_750t1:c.899_900insT	NP_109587.1:p.Gly302ArgfsTer11
XM_006722799.2:c.705+1798_705+1799insT	XP_006722862.1:n.705+1798_705+1799insT
XM_011528133.1:c.329_330insT	XP_011526435.1:p.Gly112ArgfsTer11
XM_017026989.1:c.899_900insT	XP_016882478.1:p.Gly302ArgfsTer11
XM_017026990.1:c.705+1798_705+1799insT	XP_016882479.1:n.705+1798_705+1799insT
NM_030662.4:c.899_900insT MANE Select	NP_109587.1:p.Gly302ArgfsTer11