Canonical Allele Identifier: CA403383396

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4095430-T-C
• MyVariant Identifiers: chr19:g.4095428T>C (hg19) ; chr19:g.4095430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095430T>C , CM000681.2:g.4095430T>C	GRCh38
NC_000019.9:g.4095428T>C , CM000681.1:g.4095428T>C	GRCh37
NC_000019.8:g.4046428T>C	NCBI36
NG_007996.1:g.33699A>G , LRG_750:g.33699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1443A>G
ENST00000688002.1:n.3155A>G
ENST00000688751.1:n.140A>G
ENST00000689792.1:n.908A>G
ENST00000262948.10:c.1004A>G MANE Select	ENSP00000262948.4:p.Asn335Ser
ENST00000262948.9:c.1004A>G	ENSP00000262948.3:p.Asn335Ser
ENST00000394867.8:c.713A>G	ENSP00000378336.1:p.Asn238Ser
ENST00000595715.1:n.819A>G
ENST00000597263.5:n.189A>G
ENST00000599021.1:c.114A>G
ENST00000600584.5:n.1564A>G
ENST00000601786.5:n.1305A>G
NM_030662.3:c.1004A>G , LRG_750t1:c.1004A>G	NP_109587.1:p.Asn335Ser
XM_006722799.2:c.725A>G	XP_006722862.1:p.Asn242Ser
XM_011528133.1:c.434A>G	XP_011526435.1:p.Asn145Ser
XM_017026989.1:c.1004A>G	XP_016882478.1:p.Asn335Ser
XM_017026990.1:c.725A>G	XP_016882479.1:p.Asn242Ser
NM_030662.4:c.1004A>G MANE Select	NP_109587.1:p.Asn335Ser