Canonical Allele Identifier: CA403383327

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 997863
• ClinVar RCV Id: RCV001293480
• dbSNP Id: rs1277686711
• gnomAD v2: 19-4095413-G-A
• gnomAD v4: 19-4095415-G-A
• MyVariant Identifiers: chr19:g.4095413G>A (hg19) ; chr19:g.4095415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095415G>A , CM000681.2:g.4095415G>A	GRCh38
NC_000019.9:g.4095413G>A , CM000681.1:g.4095413G>A	GRCh37
NC_000019.8:g.4046413G>A	NCBI36
NG_007996.1:g.33714C>T , LRG_750:g.33714C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1458C>T
ENST00000688002.1:n.3170C>T
ENST00000688751.1:n.155C>T
ENST00000689792.1:n.923C>T
ENST00000262948.10:c.1019C>T MANE Select	ENSP00000262948.4:p.Pro340Leu
ENST00000262948.9:c.1019C>T	ENSP00000262948.3:p.Pro340Leu
ENST00000394867.8:c.728C>T	ENSP00000378336.1:p.Pro243Leu
ENST00000595715.1:n.834C>T
ENST00000597263.5:n.204C>T
ENST00000599021.1:c.129C>T
ENST00000600584.5:n.1579C>T
ENST00000601786.5:n.1320C>T
NM_030662.3:c.1019C>T , LRG_750t1:c.1019C>T	NP_109587.1:p.Pro340Leu
XM_006722799.2:c.740C>T	XP_006722862.1:p.Pro247Leu
XM_011528133.1:c.449C>T	XP_011526435.1:p.Pro150Leu
XM_017026989.1:c.1019C>T	XP_016882478.1:p.Pro340Leu
XM_017026990.1:c.740C>T	XP_016882479.1:p.Pro247Leu
NM_030662.4:c.1019C>T MANE Select	NP_109587.1:p.Pro340Leu