Canonical Allele Identifier: CA304445720

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 572410
• ClinVar RCV Id: RCV000693780 ; RCV001200613 ; RCV004025165
• dbSNP Id: rs1003521922
• gnomAD v2: 19-4090688-G-A
• gnomAD v4: 19-4090690-G-A
• MyVariant Identifiers: chr19:g.4090688G>A (hg19) ; chr19:g.4090690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090690G>A , CM000681.2:g.4090690G>A	GRCh38
NC_000019.9:g.4090688G>A , CM000681.1:g.4090688G>A	GRCh37
NC_000019.8:g.4041688G>A	NCBI36
NG_007996.1:g.38439C>T , LRG_750:g.38439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1550C>T
ENST00000688002.1:n.3262C>T
ENST00000688751.1:n.247C>T
ENST00000689792.1:n.1015C>T
ENST00000262948.10:c.1111C>T MANE Select	ENSP00000262948.4:p.Arg371Trp
ENST00000262948.9:c.1111C>T	ENSP00000262948.3:p.Arg371Trp
ENST00000394867.8:c.820C>T	ENSP00000378336.1:p.Arg274Trp
ENST00000597263.5:n.296C>T
ENST00000599021.1:c.221C>T
ENST00000600584.5:n.2560C>T
ENST00000601786.5:n.1412C>T
NM_030662.3:c.1111C>T , LRG_750t1:c.1111C>T	NP_109587.1:p.Arg371Trp
XM_006722799.2:c.832C>T	XP_006722862.1:p.Arg278Trp
XM_011528133.1:c.541C>T	XP_011526435.1:p.Arg181Trp
NM_030662.4:c.1111C>T MANE Select	NP_109587.1:p.Arg371Trp