Canonical Allele Identifier: CA403383343

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1305209288
• gnomAD v3: 19-4095418-G-T
• gnomAD v4: 19-4095418-G-T
• MyVariant Identifiers: chr19:g.4095416G>T (hg19) ; chr19:g.4095418G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095418G>T , CM000681.2:g.4095418G>T	GRCh38
NC_000019.9:g.4095416G>T , CM000681.1:g.4095416G>T	GRCh37
NC_000019.8:g.4046416G>T	NCBI36
NG_007996.1:g.33711C>A , LRG_750:g.33711C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1455C>A
ENST00000688002.1:n.3167C>A
ENST00000688751.1:n.152C>A
ENST00000689792.1:n.920C>A
ENST00000262948.10:c.1016C>A MANE Select	ENSP00000262948.4:p.Thr339Asn
ENST00000262948.9:c.1016C>A	ENSP00000262948.3:p.Thr339Asn
ENST00000394867.8:c.725C>A	ENSP00000378336.1:p.Thr242Asn
ENST00000595715.1:n.831C>A
ENST00000597263.5:n.201C>A
ENST00000599021.1:c.126C>A
ENST00000600584.5:n.1576C>A
ENST00000601786.5:n.1317C>A
NM_030662.3:c.1016C>A , LRG_750t1:c.1016C>A	NP_109587.1:p.Thr339Asn
XM_006722799.2:c.737C>A	XP_006722862.1:p.Thr246Asn
XM_011528133.1:c.446C>A	XP_011526435.1:p.Thr149Asn
XM_017026989.1:c.1016C>A	XP_016882478.1:p.Thr339Asn
XM_017026990.1:c.737C>A	XP_016882479.1:p.Thr246Asn
NM_030662.4:c.1016C>A MANE Select	NP_109587.1:p.Thr339Asn