Canonical Allele Identifier: CA344645748

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364612G>C (hg19) ; chr1:g.220191270G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191270G>C , CM000663.2:g.220191270G>C	GRCh38
NC_000001.10:g.220364612G>C , CM000663.1:g.220364612G>C	GRCh37
NC_000001.9:g.218431235G>C	NCBI36
NG_015837.1:g.86232C>G
NG_015837.2:g.86232C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1285C>G	ENSP00000509457.1:p.Gln429Glu
ENST00000685664.1:c.1285C>G	ENSP00000509121.1:p.Gln429Glu
ENST00000686381.1:c.1021C>G	ENSP00000509555.1:p.Gln341Glu
ENST00000687065.1:c.1021C>G	ENSP00000510408.1:p.Gln341Glu
ENST00000687394.1:n.1391C>G
ENST00000687647.1:c.1021C>G	ENSP00000509205.1:p.Gln341Glu
ENST00000688035.1:n.1700C>G
ENST00000690315.1:c.1186C>G	ENSP00000509834.1:p.Gln396Glu
ENST00000690373.1:n.1624C>G
ENST00000690379.1:n.1315C>G
ENST00000690824.1:c.1285C>G	ENSP00000510709.1:p.Gln429Glu
ENST00000691661.1:c.1297C>G	ENSP00000510185.1:p.Gln433Glu
ENST00000691862.1:c.1183C>G	ENSP00000509291.1:p.Gln395Glu
ENST00000692813.1:c.1285C>G	ENSP00000509080.1:p.Gln429Glu
ENST00000692972.1:c.1360C>G	ENSP00000510753.1:p.Gln454Glu
ENST00000693454.1:n.495C>G
ENST00000693602.1:n.1378C>G
ENST00000358951.7:c.1285C>G MANE Select	ENSP00000351832.2:p.Gln429Glu
ENST00000358951.6:c.1285C>G	ENSP00000351832.2:p.Gln429Glu
ENST00000478976.1:n.292-845C>G
NM_012414.3:c.1285C>G	NP_036546.2:p.Gln429Glu
NM_012414.4:c.1285C>G MANE Select	NP_036546.2:p.Gln429Glu