Canonical Allele Identifier: CA37563146

Gene: RAB3GAP2

Linked Data

• dbSNP Id: rs559461371
• gnomAD v2: 1-220364549-A-G
• gnomAD v3: 1-220191207-A-G
• gnomAD v4: 1-220191207-A-G
• MyVariant Identifiers: chr1:g.220364549A>G (hg19) ; chr1:g.220191207A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191207A>G , CM000663.2:g.220191207A>G	GRCh38
NC_000001.10:g.220364549A>G , CM000663.1:g.220364549A>G	GRCh37
NC_000001.9:g.218431172A>G	NCBI36
NG_015837.1:g.86295T>C
NG_015837.2:g.86295T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1348T>C	ENSP00000509457.1:p.Ser450Pro
ENST00000685664.1:c.1348T>C	ENSP00000509121.1:p.Ser450Pro
ENST00000686381.1:c.1084T>C	ENSP00000509555.1:p.Ser362Pro
ENST00000687065.1:c.1084T>C	ENSP00000510408.1:p.Ser362Pro
ENST00000687394.1:n.1454T>C
ENST00000687647.1:c.1084T>C	ENSP00000509205.1:p.Ser362Pro
ENST00000688035.1:n.1763T>C
ENST00000690315.1:c.1249T>C	ENSP00000509834.1:p.Ser417Pro
ENST00000690373.1:n.1687T>C
ENST00000690379.1:n.1378T>C
ENST00000690824.1:c.1348T>C	ENSP00000510709.1:p.Ser450Pro
ENST00000691661.1:c.1360T>C	ENSP00000510185.1:p.Ser454Pro
ENST00000691862.1:c.1246T>C	ENSP00000509291.1:p.Ser416Pro
ENST00000692813.1:c.1348T>C	ENSP00000509080.1:p.Ser450Pro
ENST00000692972.1:c.1423T>C	ENSP00000510753.1:p.Ser475Pro
ENST00000693454.1:n.558T>C
ENST00000693602.1:n.1441T>C
ENST00000358951.7:c.1348T>C MANE Select	ENSP00000351832.2:p.Ser450Pro
ENST00000358951.6:c.1348T>C	ENSP00000351832.2:p.Ser450Pro
ENST00000478976.1:n.292-782T>C
NM_012414.3:c.1348T>C	NP_036546.2:p.Ser450Pro
NM_012414.4:c.1348T>C MANE Select	NP_036546.2:p.Ser450Pro