Canonical Allele Identifier: CA992817366

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040845728
• gnomAD v3: 19-4090606-CGGT-C
• gnomAD v4: 19-4090606-CGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090608_4090610del , CM000681.2:g.4090608_4090610del	GRCh38
NC_000019.9:g.4090606_4090608del , CM000681.1:g.4090606_4090608del	GRCh37
NC_000019.8:g.4041606_4041608del	NCBI36
NG_007996.1:g.38520_38522del , LRG_750:g.38520_38522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1631_1633del
ENST00000688002.1:n.3343_3345del
ENST00000688751.1:n.328_330del
ENST00000689792.1:n.1096_1098del
ENST00000262948.10:c.1192_1194del MANE Select	ENSP00000262948.4:p.Thr398del
ENST00000262948.9:c.1192_1194del	ENSP00000262948.3:p.Thr398del
ENST00000394867.8:c.901_903del	ENSP00000378336.1:p.Thr301del
ENST00000597263.5:n.377_379del
ENST00000599021.1:c.302_304del
ENST00000600584.5:n.2641_2643del
ENST00000601786.5:n.1493_1495del
NM_030662.3:c.1192_1194del , LRG_750t1:c.1192_1194del	NP_109587.1:p.Thr398del
XM_006722799.2:c.913_915del	XP_006722862.1:p.Thr305del
XM_011528133.1:c.622_624del	XP_011526435.1:p.Thr208del
NM_030662.4:c.1192_1194del MANE Select	NP_109587.1:p.Thr398del