Canonical Allele Identifier: CA631714508

Gene: MAP2K2

Linked Data

• gnomAD v2: 19-4099311-C-CG
• MyVariant Identifiers: chr19:g.4099311_4099312insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099319dup , CM000681.2:g.4099319dup	GRCh38
NC_000019.9:g.4099317dup , CM000681.1:g.4099317dup	GRCh37
NC_000019.8:g.4050317dup	NCBI36
NG_007996.1:g.29815dup , LRG_750:g.29815dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1245dup
ENST00000687128.1:n.1245dup
ENST00000688002.1:n.1100dup
ENST00000689792.1:n.710dup
ENST00000262948.10:c.806dup MANE Select	ENSP00000262948.4:p.Pro270AlafsTer?
ENST00000262948.9:c.806dup	ENSP00000262948.3:p.Pro270AlafsTer?
ENST00000394867.8:c.515dup	ENSP00000378336.1:p.Pro173AlafsTer?
ENST00000593364.5:n.753dup
ENST00000595715.1:n.621dup
ENST00000597263.5:n.169+1705dup
ENST00000599021.1:c.29+1705dup
ENST00000600584.5:n.1366dup
ENST00000601786.5:n.1107dup
NM_030662.3:c.806dup , LRG_750t1:c.806dup	NP_109587.1:p.Pro270AlafsTer?
XM_006722799.2:c.705+1705dup	XP_006722862.1:n.705+1705dup
XM_011528133.1:c.236dup	XP_011526435.1:p.Pro80AlafsTer?
XM_017026989.1:c.806dup	XP_016882478.1:p.Pro270AlafsTer?
XM_017026990.1:c.705+1705dup	XP_016882479.1:n.705+1705dup
NM_030662.4:c.806dup MANE Select	NP_109587.1:p.Pro270AlafsTer?