Canonical Allele Identifier: CA403392508

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4117474G>C (hg19) ; chr19:g.4117476G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4117476G>C , CM000681.2:g.4117476G>C	GRCh38
NC_000019.9:g.4117474G>C , CM000681.1:g.4117474G>C	GRCh37
NC_000019.8:g.4068474G>C	NCBI36
NG_007996.1:g.11653C>G , LRG_750:g.11653C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.685C>G
ENST00000687128.1:n.685C>G
ENST00000262948.10:c.246C>G MANE Select	ENSP00000262948.4:p.Asn82Lys
ENST00000262948.9:c.246C>G	ENSP00000262948.3:p.Asn82Lys
ENST00000394867.8:c.-46C>G	ENSP00000378336.1:n.-46C>G
ENST00000599345.1:n.443C>G
NM_030662.3:c.246C>G , LRG_750t1:c.246C>G	NP_109587.1:p.Asn82Lys
XM_006722799.2:c.246C>G	XP_006722862.1:p.Asn82Lys
XM_017026989.1:c.246C>G	XP_016882478.1:p.Asn82Lys
XM_017026990.1:c.246C>G	XP_016882479.1:p.Asn82Lys
XM_017026991.1:c.246C>G	XP_016882480.1:p.Asn82Lys
NM_030662.4:c.246C>G MANE Select	NP_109587.1:p.Asn82Lys