Canonical Allele Identifier: CA304447615

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 561450
• ClinVar RCV Id: RCV000680746
• dbSNP Id: rs16992199
• gnomAD v2: 19-4095597-G-C
• gnomAD v3: 19-4095599-G-C
• gnomAD v4: 19-4095599-G-C
• MyVariant Identifiers: chr19:g.4095597G>C (hg19) ; chr19:g.4095599G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095599G>C , CM000681.2:g.4095599G>C	GRCh38
NC_000019.9:g.4095597G>C , CM000681.1:g.4095597G>C	GRCh37
NC_000019.8:g.4046597G>C	NCBI36
NG_007996.1:g.33530C>G , LRG_750:g.33530C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1424-150C>G
ENST00000688002.1:n.3136-150C>G
ENST00000688751.1:n.121-150C>G
ENST00000689792.1:n.889-150C>G
ENST00000262948.10:c.985-150C>G MANE Select	ENSP00000262948.4:n.985-150C>G
ENST00000262948.9:c.985-150C>G	ENSP00000262948.3:n.985-150C>G
ENST00000394867.8:c.694-150C>G	ENSP00000378336.1:n.694-150C>G
ENST00000595715.1:n.800-150C>G
ENST00000597263.5:n.170-150C>G
ENST00000599021.1:c.95-150C>G
ENST00000600584.5:n.1545-150C>G
ENST00000601786.5:n.1286-150C>G
NM_030662.3:c.985-150C>G , LRG_750t1:c.985-150C>G	NP_109587.1:n.985-150C>G
XM_006722799.2:c.706-150C>G	XP_006722862.1:n.706-150C>G
XM_011528133.1:c.415-150C>G	XP_011526435.1:n.415-150C>G
XM_017026989.1:c.985-150C>G	XP_016882478.1:n.985-150C>G
XM_017026990.1:c.706-150C>G	XP_016882479.1:n.706-150C>G
NM_030662.4:c.985-150C>G MANE Select	NP_109587.1:n.985-150C>G