Canonical Allele Identifier: CA403381258

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4090708-T-A
• MyVariant Identifiers: chr19:g.4090706T>A (hg19) ; chr19:g.4090708T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090708T>A , CM000681.2:g.4090708T>A	GRCh38
NC_000019.9:g.4090706T>A , CM000681.1:g.4090706T>A	GRCh37
NC_000019.8:g.4041706T>A	NCBI36
NG_007996.1:g.38421A>T , LRG_750:g.38421A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1532A>T
ENST00000688002.1:n.3244A>T
ENST00000688751.1:n.229A>T
ENST00000689792.1:n.997A>T
ENST00000262948.10:c.1093A>T MANE Select	ENSP00000262948.4:p.Asn365Tyr
ENST00000262948.9:c.1093A>T	ENSP00000262948.3:p.Asn365Tyr
ENST00000394867.8:c.802A>T	ENSP00000378336.1:p.Asn268Tyr
ENST00000597263.5:n.278A>T
ENST00000599021.1:c.203A>T
ENST00000600584.5:n.2542A>T
ENST00000601786.5:n.1394A>T
NM_030662.3:c.1093A>T , LRG_750t1:c.1093A>T	NP_109587.1:p.Asn365Tyr
XM_006722799.2:c.814A>T	XP_006722862.1:p.Asn272Tyr
XM_011528133.1:c.523A>T	XP_011526435.1:p.Asn175Tyr
NM_030662.4:c.1093A>T MANE Select	NP_109587.1:p.Asn365Tyr