Canonical Allele Identifier: CA631537742

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1187127819
• gnomAD v2: 19-4094207-T-TCAGAGCC
• gnomAD v3: 19-4094209-T-TCAGAGCC
• gnomAD v4: 19-4094209-T-TCAGAGCC
• MyVariant Identifiers: chr19:g.4094207_4094208insCAGAGCC (hg19) ; chr19:g.4094209_4094210insCAGAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094216_4094222dup , CM000681.2:g.4094216_4094222dup	GRCh38
NC_000019.9:g.4094214_4094220dup , CM000681.1:g.4094214_4094220dup	GRCh37
NC_000019.8:g.4045214_4045220dup	NCBI36
NG_007996.1:g.34913_34919dup , LRG_750:g.34913_34919dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1531+237_1531+243dup
ENST00000688002.1:n.3243+237_3243+243dup
ENST00000688751.1:n.228+237_228+243dup
ENST00000689792.1:n.996+237_996+243dup
ENST00000262948.10:c.1092+237_1092+243dup MANE Select	ENSP00000262948.4:n.1092+237_1092+243dup
ENST00000262948.9:c.1092+237_1092+243dup	ENSP00000262948.3:n.1092+237_1092+243dup
ENST00000394867.8:c.801+237_801+243dup	ENSP00000378336.1:n.801+237_801+243dup
ENST00000597263.5:n.277+237_277+243dup
ENST00000599021.1:c.202+237_202+243dup
ENST00000600584.5:n.2541+237_2541+243dup
ENST00000601786.5:n.1393+237_1393+243dup
NM_030662.3:c.1092+237_1092+243dup , LRG_750t1:c.1092+237_1092+243dup	NP_109587.1:n.1092+237_1092+243dup
XM_006722799.2:c.813+237_813+243dup	XP_006722862.1:n.813+237_813+243dup
XM_011528133.1:c.522+237_522+243dup	XP_011526435.1:n.522+237_522+243dup
NM_030662.4:c.1092+237_1092+243dup MANE Select	NP_109587.1:n.1092+237_1092+243dup