Canonical Allele Identifier: CA304447656

Gene: MAP2K2

Linked Data

• dbSNP Id: rs964502792
• gnomAD v2: 19-4095662-TC-T
• gnomAD v3: 19-4095664-TC-T
• gnomAD v4: 19-4095664-TC-T
• MyVariant Identifiers: chr19:g.4095663del (hg19) ; chr19:g.4095665del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095669del , CM000681.2:g.4095669del	GRCh38
NC_000019.9:g.4095667del , CM000681.1:g.4095667del	GRCh37
NC_000019.8:g.4046667del	NCBI36
NG_007996.1:g.33464del , LRG_750:g.33464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1424-216del
ENST00000688002.1:n.3136-216del
ENST00000688751.1:n.121-216del
ENST00000689792.1:n.889-216del
ENST00000262948.10:c.985-216del MANE Select	ENSP00000262948.4:n.985-216del
ENST00000262948.9:c.985-216del	ENSP00000262948.3:n.985-216del
ENST00000394867.8:c.694-216del	ENSP00000378336.1:n.694-216del
ENST00000595715.1:n.800-216del
ENST00000597263.5:n.170-216del
ENST00000599021.1:c.95-216del
ENST00000600584.5:n.1545-216del
ENST00000601786.5:n.1286-216del
NM_030662.3:c.985-216del , LRG_750t1:c.985-216del	NP_109587.1:n.985-216del
XM_006722799.2:c.706-216del	XP_006722862.1:n.706-216del
XM_011528133.1:c.415-216del	XP_011526435.1:n.415-216del
XM_017026989.1:c.985-216del	XP_016882478.1:n.985-216del
XM_017026990.1:c.706-216del	XP_016882479.1:n.706-216del
NM_030662.4:c.985-216del MANE Select	NP_109587.1:n.985-216del