Canonical Allele Identifier: CA344645616

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364555C>G (hg19) ; chr1:g.220191213C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191213C>G , CM000663.2:g.220191213C>G	GRCh38
NC_000001.10:g.220364555C>G , CM000663.1:g.220364555C>G	GRCh37
NC_000001.9:g.218431178C>G	NCBI36
NG_015837.1:g.86289G>C
NG_015837.2:g.86289G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1342G>C	ENSP00000509457.1:p.Asp448His
ENST00000685664.1:c.1342G>C	ENSP00000509121.1:p.Asp448His
ENST00000686381.1:c.1078G>C	ENSP00000509555.1:p.Asp360His
ENST00000687065.1:c.1078G>C	ENSP00000510408.1:p.Asp360His
ENST00000687394.1:n.1448G>C
ENST00000687647.1:c.1078G>C	ENSP00000509205.1:p.Asp360His
ENST00000688035.1:n.1757G>C
ENST00000690315.1:c.1243G>C	ENSP00000509834.1:p.Asp415His
ENST00000690373.1:n.1681G>C
ENST00000690379.1:n.1372G>C
ENST00000690824.1:c.1342G>C	ENSP00000510709.1:p.Asp448His
ENST00000691661.1:c.1354G>C	ENSP00000510185.1:p.Asp452His
ENST00000691862.1:c.1240G>C	ENSP00000509291.1:p.Asp414His
ENST00000692813.1:c.1342G>C	ENSP00000509080.1:p.Asp448His
ENST00000692972.1:c.1417G>C	ENSP00000510753.1:p.Asp473His
ENST00000693454.1:n.552G>C
ENST00000693602.1:n.1435G>C
ENST00000358951.7:c.1342G>C MANE Select	ENSP00000351832.2:p.Asp448His
ENST00000358951.6:c.1342G>C	ENSP00000351832.2:p.Asp448His
ENST00000478976.1:n.292-788G>C
NM_012414.3:c.1342G>C	NP_036546.2:p.Asp448His
NM_012414.4:c.1342G>C MANE Select	NP_036546.2:p.Asp448His