Canonical Allele Identifier: CA344645550

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364524G>C (hg19) ; chr1:g.220191182G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191182G>C , CM000663.2:g.220191182G>C	GRCh38
NC_000001.10:g.220364524G>C , CM000663.1:g.220364524G>C	GRCh37
NC_000001.9:g.218431147G>C	NCBI36
NG_015837.1:g.86320C>G
NG_015837.2:g.86320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1373C>G	ENSP00000509457.1:p.Pro458Arg
ENST00000685664.1:c.1373C>G	ENSP00000509121.1:p.Pro458Arg
ENST00000686381.1:c.1109C>G	ENSP00000509555.1:p.Pro370Arg
ENST00000687065.1:c.1109C>G	ENSP00000510408.1:p.Pro370Arg
ENST00000687394.1:n.1479C>G
ENST00000687647.1:c.1109C>G	ENSP00000509205.1:p.Pro370Arg
ENST00000688035.1:n.1788C>G
ENST00000690315.1:c.1274C>G	ENSP00000509834.1:p.Pro425Arg
ENST00000690373.1:n.1712C>G
ENST00000690379.1:n.1403C>G
ENST00000690824.1:c.1373C>G	ENSP00000510709.1:p.Pro458Arg
ENST00000691661.1:c.1385C>G	ENSP00000510185.1:p.Pro462Arg
ENST00000691862.1:c.1271C>G	ENSP00000509291.1:p.Pro424Arg
ENST00000692813.1:c.1373C>G	ENSP00000509080.1:p.Pro458Arg
ENST00000692972.1:c.1448C>G	ENSP00000510753.1:p.Pro483Arg
ENST00000693454.1:n.583C>G
ENST00000693602.1:n.1466C>G
ENST00000358951.7:c.1373C>G MANE Select	ENSP00000351832.2:p.Pro458Arg
ENST00000358951.6:c.1373C>G	ENSP00000351832.2:p.Pro458Arg
ENST00000478976.1:n.292-757C>G
NM_012414.3:c.1373C>G	NP_036546.2:p.Pro458Arg
NM_012414.4:c.1373C>G MANE Select	NP_036546.2:p.Pro458Arg