Canonical Allele Identifier: CA882241845

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1461669930
• gnomAD v4: 19-4094709-A-AC
• MyVariant Identifiers: chr19:g.4094707_4094708insC (hg19) ; chr19:g.4094709_4094710insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094715dup , CM000681.2:g.4094715dup	GRCh38
NC_000019.9:g.4094713dup , CM000681.1:g.4094713dup	GRCh37
NC_000019.8:g.4045713dup	NCBI36
NG_007996.1:g.34419dup , LRG_750:g.34419dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1486-212dup
ENST00000688002.1:n.3198-212dup
ENST00000688751.1:n.183-212dup
ENST00000689792.1:n.951-212dup
ENST00000262948.10:c.1047-212dup MANE Select	ENSP00000262948.4:n.1047-212dup
ENST00000262948.9:c.1047-212dup	ENSP00000262948.3:n.1047-212dup
ENST00000394867.8:c.756-212dup	ENSP00000378336.1:n.756-212dup
ENST00000597263.5:n.232-212dup
ENST00000599021.1:c.157-212dup
ENST00000600584.5:n.2284dup
ENST00000601786.5:n.1348-212dup
NM_030662.3:c.1047-212dup , LRG_750t1:c.1047-212dup	NP_109587.1:n.1047-212dup
XM_006722799.2:c.768-212dup	XP_006722862.1:n.768-212dup
XM_011528133.1:c.477-212dup	XP_011526435.1:n.477-212dup
XM_017026989.1:c.1383dup	XP_016882478.1:p.Cys462ValfsTer?
XM_017026990.1:c.1104dup	XP_016882479.1:p.Cys369ValfsTer?
NM_030662.4:c.1047-212dup MANE Select	NP_109587.1:n.1047-212dup