Canonical Allele Identifier: CA1402000

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220151692G>A , CM000663.2:g.220151692G>A	GRCh38
NC_000001.10:g.220325034G>A , CM000663.1:g.220325034G>A	GRCh37
NC_000001.9:g.218391657G>A	NCBI36
NG_015837.1:g.125810C>T
NG_015837.2:g.125810C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012414.4:c.3940C>T MANE Select	NP_036546.2:p.His1314Tyr
ENST00000358951.7:c.3940C>T MANE Select	ENSP00000351832.2:p.His1314Tyr
NM_012414.3:c.3940C>T	NP_036546.2:p.His1314Tyr
ENST00000358951.6:c.3940C>T	ENSP00000351832.2:p.His1314Tyr
ENST00000474966.1:n.611C>T
ENST00000474966.2:n.1932C>T
ENST00000491005.5:n.388C>T
ENST00000491005.6:n.4966C>T
ENST00000491305.1:n.756C>T
ENST00000491305.2:n.4435C>T
ENST00000685286.1:c.*1265C>T	ENSP00000509457.1:n.*1265C>T
ENST00000685664.1:c.3940C>T	ENSP00000509121.1:p.His1314Tyr
ENST00000686381.1:c.3676C>T	ENSP00000509555.1:p.His1226Tyr
ENST00000687065.1:c.3676C>T	ENSP00000510408.1:p.His1226Tyr
ENST00000687647.1:c.3676C>T	ENSP00000509205.1:p.His1226Tyr
ENST00000688035.1:n.6950C>T
ENST00000690315.1:c.3841C>T	ENSP00000509834.1:p.His1281Tyr
ENST00000690373.1:n.4279C>T
ENST00000690824.1:c.3865C>T	ENSP00000510709.1:p.His1289Tyr
ENST00000691661.1:c.3952C>T	ENSP00000510185.1:p.His1318Tyr
ENST00000691862.1:c.3838C>T	ENSP00000509291.1:p.His1280Tyr
ENST00000692813.1:c.3904C>T	ENSP00000509080.1:p.His1302Tyr
ENST00000692972.1:c.4015C>T	ENSP00000510753.1:p.His1339Tyr
ENST00000693602.1:n.6526C>T