Canonical Allele Identifier: CA403383345

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4095418-G-C
• MyVariant Identifiers: chr19:g.4095416G>C (hg19) ; chr19:g.4095418G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1455C>G
ENST00000688002.1:n.3167C>G
ENST00000688751.1:n.152C>G
ENST00000689792.1:n.920C>G
ENST00000262948.10:c.1016C>G MANE Select	ENSP00000262948.4:p.Thr339Ser
ENST00000262948.9:c.1016C>G	ENSP00000262948.3:p.Thr339Ser
ENST00000394867.8:c.725C>G	ENSP00000378336.1:p.Thr242Ser
ENST00000595715.1:n.831C>G
ENST00000597263.5:n.201C>G
ENST00000599021.1:c.126C>G
ENST00000600584.5:n.1576C>G
ENST00000601786.5:n.1317C>G
NM_030662.3:c.1016C>G , LRG_750t1:c.1016C>G	NP_109587.1:p.Thr339Ser
XM_006722799.2:c.737C>G	XP_006722862.1:p.Thr246Ser
XM_011528133.1:c.446C>G	XP_011526435.1:p.Thr149Ser
XM_017026989.1:c.1016C>G	XP_016882478.1:p.Thr339Ser
XM_017026990.1:c.737C>G	XP_016882479.1:p.Thr246Ser
NM_030662.4:c.1016C>G MANE Select	NP_109587.1:p.Thr339Ser