Canonical Allele Identifier: CA403382524

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4094487-T-C
• MyVariant Identifiers: chr19:g.4094485T>C (hg19) ; chr19:g.4094487T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094487T>C , CM000681.2:g.4094487T>C	GRCh38
NC_000019.9:g.4094485T>C , CM000681.1:g.4094485T>C	GRCh37
NC_000019.8:g.4045485T>C	NCBI36
NG_007996.1:g.34642A>G , LRG_750:g.34642A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1497A>G
ENST00000688002.1:n.3209A>G
ENST00000688751.1:n.194A>G
ENST00000689792.1:n.962A>G
ENST00000262948.10:c.1058A>G MANE Select	ENSP00000262948.4:p.Asn353Ser
ENST00000262948.9:c.1058A>G	ENSP00000262948.3:p.Asn353Ser
ENST00000394867.8:c.767A>G	ENSP00000378336.1:p.Asn256Ser
ENST00000597263.5:n.243A>G
ENST00000599021.1:c.168A>G
ENST00000600584.5:n.2507A>G
ENST00000601786.5:n.1359A>G
NM_030662.3:c.1058A>G , LRG_750t1:c.1058A>G	NP_109587.1:p.Asn353Ser
XM_006722799.2:c.779A>G	XP_006722862.1:p.Asn260Ser
XM_011528133.1:c.488A>G	XP_011526435.1:p.Asn163Ser
NM_030662.4:c.1058A>G MANE Select	NP_109587.1:p.Asn353Ser