Canonical Allele Identifier: CA631539187

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1443848841
• gnomAD v2: 19-4099395-GC-G
• MyVariant Identifiers: chr19:g.4099396del (hg19) ; chr19:g.4099398del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099400del , CM000681.2:g.4099400del	GRCh38
NC_000019.9:g.4099398del , CM000681.1:g.4099398del	GRCh37
NC_000019.8:g.4050398del	NCBI36
NG_007996.1:g.29731del , LRG_750:g.29731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1161del
ENST00000687128.1:n.1161del
ENST00000688002.1:n.1016del
ENST00000689792.1:n.646-20del
ENST00000262948.10:c.722del MANE Select	ENSP00000262948.4:p.Gly241AlafsTer?
ENST00000262948.9:c.722del	ENSP00000262948.3:p.Gly241AlafsTer?
ENST00000394867.8:c.431del	ENSP00000378336.1:p.Gly144AlafsTer?
ENST00000593364.5:n.669del
ENST00000595715.1:n.537del
ENST00000597263.5:n.169+1621del
ENST00000599021.1:c.29+1621del
ENST00000600584.5:n.1282del
ENST00000601786.5:n.1023del
NM_030662.3:c.722del , LRG_750t1:c.722del	NP_109587.1:p.Gly241AlafsTer?
XM_006722799.2:c.705+1621del	XP_006722862.1:n.705+1621del
XM_011528133.1:c.152del	XP_011526435.1:p.Gly51AlafsTer?
XM_017026989.1:c.722del	XP_016882478.1:p.Gly241AlafsTer?
XM_017026990.1:c.705+1621del	XP_016882479.1:n.705+1621del
NM_030662.4:c.722del MANE Select	NP_109587.1:p.Gly241AlafsTer?