Canonical Allele Identifier: CA1402495

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220182754T>C , CM000663.2:g.220182754T>C	GRCh38
NC_000001.10:g.220356096T>C , CM000663.1:g.220356096T>C	GRCh37
NC_000001.9:g.218422719T>C	NCBI36
NG_015837.1:g.94748A>G
NG_015837.2:g.94748A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012414.4:c.2176A>G MANE Select	NP_036546.2:p.Ile726Val
ENST00000358951.7:c.2176A>G MANE Select	ENSP00000351832.2:p.Ile726Val
NM_012414.3:c.2176A>G	NP_036546.2:p.Ile726Val
ENST00000358951.6:c.2176A>G	ENSP00000351832.2:p.Ile726Val
ENST00000685286.1:c.2176A>G	ENSP00000509457.1:p.Ile726Val
ENST00000685664.1:c.2176A>G	ENSP00000509121.1:p.Ile726Val
ENST00000686381.1:c.1912A>G	ENSP00000509555.1:p.Ile638Val
ENST00000687065.1:c.1912A>G	ENSP00000510408.1:p.Ile638Val
ENST00000687394.1:n.2282A>G
ENST00000687647.1:c.1912A>G	ENSP00000509205.1:p.Ile638Val
ENST00000688035.1:n.2591A>G
ENST00000690315.1:c.2077A>G	ENSP00000509834.1:p.Ile693Val
ENST00000690373.1:n.2515A>G
ENST00000690824.1:c.2176A>G	ENSP00000510709.1:p.Ile726Val
ENST00000691661.1:c.2188A>G	ENSP00000510185.1:p.Ile730Val
ENST00000691862.1:c.2074A>G	ENSP00000509291.1:p.Ile692Val
ENST00000692813.1:c.2176A>G	ENSP00000509080.1:p.Ile726Val
ENST00000692972.1:c.2251A>G	ENSP00000510753.1:p.Ile751Val
ENST00000693454.1:n.1386A>G
ENST00000693602.1:n.2269A>G