Canonical Allele Identifier: CA403381246

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4090705-G-T
• MyVariant Identifiers: chr19:g.4090703G>T (hg19) ; chr19:g.4090705G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090705G>T , CM000681.2:g.4090705G>T	GRCh38
NC_000019.9:g.4090703G>T , CM000681.1:g.4090703G>T	GRCh37
NC_000019.8:g.4041703G>T	NCBI36
NG_007996.1:g.38424C>A , LRG_750:g.38424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1535C>A
ENST00000688002.1:n.3247C>A
ENST00000688751.1:n.232C>A
ENST00000689792.1:n.1000C>A
ENST00000262948.10:c.1096C>A MANE Select	ENSP00000262948.4:p.His366Asn
ENST00000262948.9:c.1096C>A	ENSP00000262948.3:p.His366Asn
ENST00000394867.8:c.805C>A	ENSP00000378336.1:p.His269Asn
ENST00000597263.5:n.281C>A
ENST00000599021.1:c.206C>A
ENST00000600584.5:n.2545C>A
ENST00000601786.5:n.1397C>A
NM_030662.3:c.1096C>A , LRG_750t1:c.1096C>A	NP_109587.1:p.His366Asn
XM_006722799.2:c.817C>A	XP_006722862.1:p.His273Asn
XM_011528133.1:c.526C>A	XP_011526435.1:p.His176Asn
NM_030662.4:c.1096C>A MANE Select	NP_109587.1:p.His366Asn