Canonical Allele Identifier: CA504984536

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4095390-T-C
• MyVariant Identifiers: chr19:g.4095388T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095390T>C , CM000681.2:g.4095390T>C	GRCh38
NC_000019.9:g.4095388T>C , CM000681.1:g.4095388T>C	GRCh37
NC_000019.8:g.4046388T>C	NCBI36
NG_007996.1:g.33739A>G , LRG_750:g.33739A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1483A>G
ENST00000688002.1:n.3195A>G
ENST00000688751.1:n.180A>G
ENST00000689792.1:n.948A>G
ENST00000262948.10:c.1044A>G MANE Select	ENSP00000262948.4:p.Lys348=
ENST00000262948.9:c.1044A>G	ENSP00000262948.3:p.Lys348=
ENST00000394867.8:c.753A>G	ENSP00000378336.1:p.Lys251=
ENST00000595715.1:n.859A>G
ENST00000597263.5:n.229A>G
ENST00000599021.1:c.154A>G
ENST00000600584.5:n.1604A>G
ENST00000601786.5:n.1345A>G
NM_030662.3:c.1044A>G , LRG_750t1:c.1044A>G	NP_109587.1:p.Lys348=
XM_006722799.2:c.765A>G	XP_006722862.1:p.Lys255=
XM_011528133.1:c.474A>G	XP_011526435.1:p.Lys158=
XM_017026989.1:c.1044A>G	XP_016882478.1:p.Lys348=
XM_017026990.1:c.765A>G	XP_016882479.1:p.Lys255=
NM_030662.4:c.1044A>G MANE Select	NP_109587.1:p.Lys348=