Canonical Allele Identifier: CA631537750

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1399200371
• gnomAD v2: 19-4094269-TTC-T
• MyVariant Identifiers: chr19:g.4094270_4094271del (hg19) ; chr19:g.4094272_4094273del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094276_4094277del , CM000681.2:g.4094276_4094277del	GRCh38
NC_000019.9:g.4094274_4094275del , CM000681.1:g.4094274_4094275del	GRCh37
NC_000019.8:g.4045274_4045275del	NCBI36
NG_007996.1:g.34856_34857del , LRG_750:g.34856_34857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1531+180_1531+181del
ENST00000688002.1:n.3243+180_3243+181del
ENST00000688751.1:n.228+180_228+181del
ENST00000689792.1:n.996+180_996+181del
ENST00000262948.10:c.1092+180_1092+181del MANE Select	ENSP00000262948.4:n.1092+180_1092+181del
ENST00000262948.9:c.1092+180_1092+181del	ENSP00000262948.3:n.1092+180_1092+181del
ENST00000394867.8:c.801+180_801+181del	ENSP00000378336.1:n.801+180_801+181del
ENST00000597263.5:n.277+180_277+181del
ENST00000599021.1:c.202+180_202+181del
ENST00000600584.5:n.2541+180_2541+181del
ENST00000601786.5:n.1393+180_1393+181del
NM_030662.3:c.1092+180_1092+181del , LRG_750t1:c.1092+180_1092+181del	NP_109587.1:n.1092+180_1092+181del
XM_006722799.2:c.813+180_813+181del	XP_006722862.1:n.813+180_813+181del
XM_011528133.1:c.522+180_522+181del	XP_011526435.1:n.522+180_522+181del
NM_030662.4:c.1092+180_1092+181del MANE Select	NP_109587.1:n.1092+180_1092+181del