Canonical Allele Identifier: CA403382441

Gene: MAP2K2

Linked Data

• dbSNP Id: rs746359861
• gnomAD v4: 19-4094461-T-A
• MyVariant Identifiers: chr19:g.4094459T>A (hg19) ; chr19:g.4094461T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094461T>A , CM000681.2:g.4094461T>A	GRCh38
NC_000019.9:g.4094459T>A , CM000681.1:g.4094459T>A	GRCh37
NC_000019.8:g.4045459T>A	NCBI36
NG_007996.1:g.34668A>T , LRG_750:g.34668A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1523A>T
ENST00000688002.1:n.3235A>T
ENST00000688751.1:n.220A>T
ENST00000689792.1:n.988A>T
ENST00000262948.10:c.1084A>T MANE Select	ENSP00000262948.4:p.Met362Leu
ENST00000262948.9:c.1084A>T	ENSP00000262948.3:p.Met362Leu
ENST00000394867.8:c.793A>T	ENSP00000378336.1:p.Met265Leu
ENST00000597263.5:n.269A>T
ENST00000599021.1:c.194A>T
ENST00000600584.5:n.2533A>T
ENST00000601786.5:n.1385A>T
NM_030662.3:c.1084A>T , LRG_750t1:c.1084A>T	NP_109587.1:p.Met362Leu
XM_006722799.2:c.805A>T	XP_006722862.1:p.Met269Leu
XM_011528133.1:c.514A>T	XP_011526435.1:p.Met172Leu
NM_030662.4:c.1084A>T MANE Select	NP_109587.1:p.Met362Leu