Canonical Allele Identifier: CA423169608

Gene: RAB3GAP2

Linked Data

• dbSNP Id: rs1479112715
• gnomAD v2: 1-220364589-T-C
• gnomAD v3: 1-220191247-T-C
• gnomAD v4: 1-220191247-T-C
• MyVariant Identifiers: chr1:g.220364589T>C (hg19) ; chr1:g.220191247T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191247T>C , CM000663.2:g.220191247T>C	GRCh38
NC_000001.10:g.220364589T>C , CM000663.1:g.220364589T>C	GRCh37
NC_000001.9:g.218431212T>C	NCBI36
NG_015837.1:g.86255A>G
NG_015837.2:g.86255A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1308A>G	ENSP00000509457.1:p.Val436=
ENST00000685664.1:c.1308A>G	ENSP00000509121.1:p.Val436=
ENST00000686381.1:c.1044A>G	ENSP00000509555.1:p.Val348=
ENST00000687065.1:c.1044A>G	ENSP00000510408.1:p.Val348=
ENST00000687394.1:n.1414A>G
ENST00000687647.1:c.1044A>G	ENSP00000509205.1:p.Val348=
ENST00000688035.1:n.1723A>G
ENST00000690315.1:c.1209A>G	ENSP00000509834.1:p.Val403=
ENST00000690373.1:n.1647A>G
ENST00000690379.1:n.1338A>G
ENST00000690824.1:c.1308A>G	ENSP00000510709.1:p.Val436=
ENST00000691661.1:c.1320A>G	ENSP00000510185.1:p.Val440=
ENST00000691862.1:c.1206A>G	ENSP00000509291.1:p.Val402=
ENST00000692813.1:c.1308A>G	ENSP00000509080.1:p.Val436=
ENST00000692972.1:c.1383A>G	ENSP00000510753.1:p.Val461=
ENST00000693454.1:n.518A>G
ENST00000693602.1:n.1401A>G
ENST00000358951.7:c.1308A>G MANE Select	ENSP00000351832.2:p.Val436=
ENST00000358951.6:c.1308A>G	ENSP00000351832.2:p.Val436=
ENST00000478976.1:n.292-822A>G
NM_012414.3:c.1308A>G	NP_036546.2:p.Val436=
NM_012414.4:c.1308A>G MANE Select	NP_036546.2:p.Val436=