Canonical Allele Identifier: CA2319230675

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2041138256
• gnomAD v4: 19-4110363-A-ATGGCATCGACTGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110366_4110380dup , CM000681.2:g.4110366_4110380dup	GRCh38
NC_000019.9:g.4110364_4110378dup , CM000681.1:g.4110364_4110378dup	GRCh37
NC_000019.8:g.4061364_4061378dup	NCBI36
NG_007996.1:g.18751_18765dup , LRG_750:g.18751_18765dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.889+131_889+145dup
ENST00000687128.1:n.889+131_889+145dup
ENST00000262948.10:c.450+131_450+145dup MANE Select	ENSP00000262948.4:n.450+131_450+145dup
ENST00000262948.9:c.450+131_450+145dup	ENSP00000262948.3:n.450+131_450+145dup
ENST00000394867.8:c.159+131_159+145dup	ENSP00000378336.1:n.159+131_159+145dup
ENST00000599345.1:n.647+131_647+145dup
NM_030662.3:c.450+131_450+145dup , LRG_750t1:c.450+131_450+145dup	NP_109587.1:n.450+131_450+145dup
XM_006722799.2:c.450+131_450+145dup	XP_006722862.1:n.450+131_450+145dup
XM_017026989.1:c.450+131_450+145dup	XP_016882478.1:n.450+131_450+145dup
XM_017026990.1:c.450+131_450+145dup	XP_016882479.1:n.450+131_450+145dup
XM_017026991.1:c.450+131_450+145dup	XP_016882480.1:n.450+131_450+145dup
NM_030662.4:c.450+131_450+145dup MANE Select	NP_109587.1:n.450+131_450+145dup