Canonical Allele Identifier: CA423169628

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364625C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191283C>G , CM000663.2:g.220191283C>G	GRCh38
NC_000001.10:g.220364625C>G , CM000663.1:g.220364625C>G	GRCh37
NC_000001.9:g.218431248C>G	NCBI36
NG_015837.1:g.86219G>C
NG_015837.2:g.86219G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1272G>C	ENSP00000509457.1:p.Gly424=
ENST00000685664.1:c.1272G>C	ENSP00000509121.1:p.Gly424=
ENST00000686381.1:c.1008G>C	ENSP00000509555.1:p.Gly336=
ENST00000687065.1:c.1008G>C	ENSP00000510408.1:p.Gly336=
ENST00000687394.1:n.1378G>C
ENST00000687647.1:c.1008G>C	ENSP00000509205.1:p.Gly336=
ENST00000688035.1:n.1687G>C
ENST00000690315.1:c.1173G>C	ENSP00000509834.1:p.Gly391=
ENST00000690373.1:n.1611G>C
ENST00000690379.1:n.1302G>C
ENST00000690824.1:c.1272G>C	ENSP00000510709.1:p.Gly424=
ENST00000691661.1:c.1284G>C	ENSP00000510185.1:p.Gly428=
ENST00000691862.1:c.1170G>C	ENSP00000509291.1:p.Gly390=
ENST00000692813.1:c.1272G>C	ENSP00000509080.1:p.Gly424=
ENST00000692972.1:c.1347G>C	ENSP00000510753.1:p.Gly449=
ENST00000693454.1:n.482G>C
ENST00000693602.1:n.1365G>C
ENST00000358951.7:c.1272G>C MANE Select	ENSP00000351832.2:p.Gly424=
ENST00000358951.6:c.1272G>C	ENSP00000351832.2:p.Gly424=
ENST00000478976.1:n.292-858G>C
NM_012414.3:c.1272G>C	NP_036546.2:p.Gly424=
NM_012414.4:c.1272G>C MANE Select	NP_036546.2:p.Gly424=