Canonical Allele Identifier: CA344645709

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364596T>G (hg19) ; chr1:g.220191254T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191254T>G , CM000663.2:g.220191254T>G	GRCh38
NC_000001.10:g.220364596T>G , CM000663.1:g.220364596T>G	GRCh37
NC_000001.9:g.218431219T>G	NCBI36
NG_015837.1:g.86248A>C
NG_015837.2:g.86248A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1301A>C	ENSP00000509457.1:p.Gln434Pro
ENST00000685664.1:c.1301A>C	ENSP00000509121.1:p.Gln434Pro
ENST00000686381.1:c.1037A>C	ENSP00000509555.1:p.Gln346Pro
ENST00000687065.1:c.1037A>C	ENSP00000510408.1:p.Gln346Pro
ENST00000687394.1:n.1407A>C
ENST00000687647.1:c.1037A>C	ENSP00000509205.1:p.Gln346Pro
ENST00000688035.1:n.1716A>C
ENST00000690315.1:c.1202A>C	ENSP00000509834.1:p.Gln401Pro
ENST00000690373.1:n.1640A>C
ENST00000690379.1:n.1331A>C
ENST00000690824.1:c.1301A>C	ENSP00000510709.1:p.Gln434Pro
ENST00000691661.1:c.1313A>C	ENSP00000510185.1:p.Gln438Pro
ENST00000691862.1:c.1199A>C	ENSP00000509291.1:p.Gln400Pro
ENST00000692813.1:c.1301A>C	ENSP00000509080.1:p.Gln434Pro
ENST00000692972.1:c.1376A>C	ENSP00000510753.1:p.Gln459Pro
ENST00000693454.1:n.511A>C
ENST00000693602.1:n.1394A>C
ENST00000358951.7:c.1301A>C MANE Select	ENSP00000351832.2:p.Gln434Pro
ENST00000358951.6:c.1301A>C	ENSP00000351832.2:p.Gln434Pro
ENST00000478976.1:n.292-829A>C
NM_012414.3:c.1301A>C	NP_036546.2:p.Gln434Pro
NM_012414.4:c.1301A>C MANE Select	NP_036546.2:p.Gln434Pro