Canonical Allele Identifier: CA304446995

Gene: MAP2K2

Linked Data

• dbSNP Id: rs376666299
• gnomAD v4: 19-4094215-C-A
• MyVariant Identifiers: chr19:g.4094213C>A (hg19) ; chr19:g.4094215C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094215C>A , CM000681.2:g.4094215C>A	GRCh38
NC_000019.9:g.4094213C>A , CM000681.1:g.4094213C>A	GRCh37
NC_000019.8:g.4045213C>A	NCBI36
NG_007996.1:g.34914G>T , LRG_750:g.34914G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1531+238G>T
ENST00000688002.1:n.3243+238G>T
ENST00000688751.1:n.228+238G>T
ENST00000689792.1:n.996+238G>T
ENST00000262948.10:c.1092+238G>T MANE Select	ENSP00000262948.4:n.1092+238G>T
ENST00000262948.9:c.1092+238G>T	ENSP00000262948.3:n.1092+238G>T
ENST00000394867.8:c.801+238G>T	ENSP00000378336.1:n.801+238G>T
ENST00000597263.5:n.277+238G>T
ENST00000599021.1:c.202+238G>T
ENST00000600584.5:n.2541+238G>T
ENST00000601786.5:n.1393+238G>T
NM_030662.3:c.1092+238G>T , LRG_750t1:c.1092+238G>T	NP_109587.1:n.1092+238G>T
XM_006722799.2:c.813+238G>T	XP_006722862.1:n.813+238G>T
XM_011528133.1:c.522+238G>T	XP_011526435.1:n.522+238G>T
NM_030662.4:c.1092+238G>T MANE Select	NP_109587.1:n.1092+238G>T