Canonical Allele Identifier: CA504984601

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040903594
• gnomAD v3: 19-4095411-G-A
• gnomAD v4: 19-4095411-G-A
• MyVariant Identifiers: chr19:g.4095409G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095411G>A , CM000681.2:g.4095411G>A	GRCh38
NC_000019.9:g.4095409G>A , CM000681.1:g.4095409G>A	GRCh37
NC_000019.8:g.4046409G>A	NCBI36
NG_007996.1:g.33718C>T , LRG_750:g.33718C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1462C>T
ENST00000688002.1:n.3174C>T
ENST00000688751.1:n.159C>T
ENST00000689792.1:n.927C>T
ENST00000262948.10:c.1023C>T MANE Select	ENSP00000262948.4:p.Asp341=
ENST00000262948.9:c.1023C>T	ENSP00000262948.3:p.Asp341=
ENST00000394867.8:c.732C>T	ENSP00000378336.1:p.Asp244=
ENST00000595715.1:n.838C>T
ENST00000597263.5:n.208C>T
ENST00000599021.1:c.133C>T
ENST00000600584.5:n.1583C>T
ENST00000601786.5:n.1324C>T
NM_030662.3:c.1023C>T , LRG_750t1:c.1023C>T	NP_109587.1:p.Asp341=
XM_006722799.2:c.744C>T	XP_006722862.1:p.Asp248=
XM_011528133.1:c.453C>T	XP_011526435.1:p.Asp151=
XM_017026989.1:c.1023C>T	XP_016882478.1:p.Asp341=
XM_017026990.1:c.744C>T	XP_016882479.1:p.Asp248=
NM_030662.4:c.1023C>T MANE Select	NP_109587.1:p.Asp341=