Canonical Allele Identifier: CA37563165

Gene: RAB3GAP2

Linked Data

• dbSNP Id: rs530414063
• gnomAD v4: 1-220191344-G-C
• MyVariant Identifiers: chr1:g.220191344G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191344G>C , CM000663.2:g.220191344G>C	GRCh38
NC_000001.10:g.220364686G>C , CM000663.1:g.220364686G>C	GRCh37
NC_000001.9:g.218431309G>C	NCBI36
NG_015837.1:g.86158C>G
NG_015837.2:g.86158C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1271-60C>G	ENSP00000509457.1:n.1271-60C>G
ENST00000685664.1:c.1271-60C>G	ENSP00000509121.1:n.1271-60C>G
ENST00000686381.1:c.1007-60C>G	ENSP00000509555.1:n.1007-60C>G
ENST00000687065.1:c.1007-60C>G	ENSP00000510408.1:n.1007-60C>G
ENST00000687394.1:n.1377-60C>G
ENST00000687647.1:c.1007-60C>G	ENSP00000509205.1:n.1007-60C>G
ENST00000688035.1:n.1686-60C>G
ENST00000690315.1:c.1172-60C>G	ENSP00000509834.1:n.1172-60C>G
ENST00000690373.1:n.1610-60C>G
ENST00000690379.1:n.1301-60C>G
ENST00000690824.1:c.1271-60C>G	ENSP00000510709.1:n.1271-60C>G
ENST00000691661.1:c.1283-60C>G	ENSP00000510185.1:n.1283-60C>G
ENST00000691862.1:c.1169-60C>G	ENSP00000509291.1:n.1169-60C>G
ENST00000692813.1:c.1271-60C>G	ENSP00000509080.1:n.1271-60C>G
ENST00000692972.1:c.1346-60C>G	ENSP00000510753.1:n.1346-60C>G
ENST00000693454.1:n.481-60C>G
ENST00000693602.1:n.1364-60C>G
ENST00000358951.7:c.1271-60C>G MANE Select	ENSP00000351832.2:n.1271-60C>G
ENST00000358951.6:c.1271-60C>G	ENSP00000351832.2:n.1271-60C>G
ENST00000478976.1:n.292-919C>G
NM_012414.3:c.1271-60C>G	NP_036546.2:n.1271-60C>G
NM_012414.4:c.1271-60C>G MANE Select	NP_036546.2:n.1271-60C>G