Canonical Allele Identifier: CA296154

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 180908
• ClinVar RCV Id: RCV000796637 ; RCV001721006
• dbSNP Id: rs730880513
• gnomAD v2: 19-4094458-A-G
• gnomAD v3: 19-4094460-A-G
• gnomAD v4: 19-4094460-A-G
• MyVariant Identifiers: chr19:g.4094458A>G (hg19) ; chr19:g.4094460A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094460A>G , CM000681.2:g.4094460A>G	GRCh38
NC_000019.9:g.4094458A>G , CM000681.1:g.4094458A>G	GRCh37
NC_000019.8:g.4045458A>G	NCBI36
NG_007996.1:g.34669T>C , LRG_750:g.34669T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1524T>C
ENST00000688002.1:n.3236T>C
ENST00000688751.1:n.221T>C
ENST00000689792.1:n.989T>C
ENST00000262948.10:c.1085T>C MANE Select	ENSP00000262948.4:p.Met362Thr
ENST00000262948.9:c.1085T>C	ENSP00000262948.3:p.Met362Thr
ENST00000394867.8:c.794T>C	ENSP00000378336.1:p.Met265Thr
ENST00000597263.5:n.270T>C
ENST00000599021.1:c.195T>C
ENST00000600584.5:n.2534T>C
ENST00000601786.5:n.1386T>C
NM_030662.3:c.1085T>C , LRG_750t1:c.1085T>C	NP_109587.1:p.Met362Thr
XM_006722799.2:c.806T>C	XP_006722862.1:p.Met269Thr
XM_011528133.1:c.515T>C	XP_011526435.1:p.Met172Thr
NM_030662.4:c.1085T>C MANE Select	NP_109587.1:p.Met362Thr