Canonical Allele Identifier: CA1222311630

Gene: RAB3GAP2

Linked Data

• dbSNP Id: rs1658616077
• gnomAD v4: 1-220191338-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191340_220191341del , CM000663.2:g.220191340_220191341del	GRCh38
NC_000001.10:g.220364682_220364683del , CM000663.1:g.220364682_220364683del	GRCh37
NC_000001.9:g.218431305_218431306del	NCBI36
NG_015837.1:g.86162_86163del
NG_015837.2:g.86162_86163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1271-56_1271-55del	ENSP00000509457.1:n.1271-56_1271-55del
ENST00000685664.1:c.1271-56_1271-55del	ENSP00000509121.1:n.1271-56_1271-55del
ENST00000686381.1:c.1007-56_1007-55del	ENSP00000509555.1:n.1007-56_1007-55del
ENST00000687065.1:c.1007-56_1007-55del	ENSP00000510408.1:n.1007-56_1007-55del
ENST00000687394.1:n.1377-56_1377-55del
ENST00000687647.1:c.1007-56_1007-55del	ENSP00000509205.1:n.1007-56_1007-55del
ENST00000688035.1:n.1686-56_1686-55del
ENST00000690315.1:c.1172-56_1172-55del	ENSP00000509834.1:n.1172-56_1172-55del
ENST00000690373.1:n.1610-56_1610-55del
ENST00000690379.1:n.1301-56_1301-55del
ENST00000690824.1:c.1271-56_1271-55del	ENSP00000510709.1:n.1271-56_1271-55del
ENST00000691661.1:c.1283-56_1283-55del	ENSP00000510185.1:n.1283-56_1283-55del
ENST00000691862.1:c.1169-56_1169-55del	ENSP00000509291.1:n.1169-56_1169-55del
ENST00000692813.1:c.1271-56_1271-55del	ENSP00000509080.1:n.1271-56_1271-55del
ENST00000692972.1:c.1346-56_1346-55del	ENSP00000510753.1:n.1346-56_1346-55del
ENST00000693454.1:n.481-56_481-55del
ENST00000693602.1:n.1364-56_1364-55del
ENST00000358951.7:c.1271-56_1271-55del MANE Select	ENSP00000351832.2:n.1271-56_1271-55del
ENST00000358951.6:c.1271-56_1271-55del	ENSP00000351832.2:n.1271-56_1271-55del
ENST00000478976.1:n.292-915_292-914del
NM_012414.3:c.1271-56_1271-55del	NP_036546.2:n.1271-56_1271-55del
NM_012414.4:c.1271-56_1271-55del MANE Select	NP_036546.2:n.1271-56_1271-55del