Canonical Allele Identifier: CA292004

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 138164
• ClinVar RCV Id: RCV001723694
• dbSNP Id: rs145743390
• ExAC: 19:4090577 G / A
• gnomAD v2: 19-4090577-G-A
• gnomAD v3: 19-4090579-G-A
• gnomAD v4: 19-4090579-G-A
• MyVariant Identifiers: chr19:g.4090577G>A (hg19) ; chr19:g.4090577_4090578delinsAC (hg19) ; chr19:g.4090579G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090579G>A , CM000681.2:g.4090579G>A	GRCh38
NC_000019.9:g.4090577G>A , CM000681.1:g.4090577G>A	GRCh37
NC_000019.8:g.4041577G>A	NCBI36
NG_007996.1:g.38550C>T , LRG_750:g.38550C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1661C>T
ENST00000688002.1:n.3373C>T
ENST00000688751.1:n.358C>T
ENST00000689792.1:n.1126C>T
ENST00000262948.10:c.*19C>T MANE Select	ENSP00000262948.4:n.*19C>T
ENST00000262948.9:c.*19C>T	ENSP00000262948.3:n.*19C>T
ENST00000394867.8:c.*19C>T	ENSP00000378336.1:n.*19C>T
ENST00000597263.5:n.407C>T
ENST00000600584.5:n.2671C>T
ENST00000601786.5:n.1523C>T
NM_030662.3:c.*19C>T , LRG_750t1:c.*19C>T	NP_109587.1:n.*19C>T
XM_006722799.2:c.*19C>T	XP_006722862.1:n.*19C>T
XM_011528133.1:c.*19C>T	XP_011526435.1:n.*19C>T
NM_030662.4:c.*19C>T MANE Select	NP_109587.1:n.*19C>T