Canonical Allele Identifier: CA423169630

Gene: RAB3GAP2

Linked Data

• dbSNP Id: rs541208842
• gnomAD v2: 1-220364701-AGTGGGGGTGGGG-A
• gnomAD v3: 1-220191359-AGTGGGGGTGGGG-A
• gnomAD v4: 1-220191359-AGTGGGGGTGGGG-A
• MyVariant Identifiers: chr1:g.220364702_220364713del (hg19) ; chr1:g.220191360_220191371del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191372_220191383del , CM000663.2:g.220191372_220191383del	GRCh38
NC_000001.10:g.220364714_220364725del , CM000663.1:g.220364714_220364725del	GRCh37
NC_000001.9:g.218431337_218431348del	NCBI36
NG_015837.1:g.86131_86142del
NG_015837.2:g.86131_86142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1271-87_1271-76del	ENSP00000509457.1:n.1271-87_1271-76del
ENST00000685664.1:c.1271-87_1271-76del	ENSP00000509121.1:n.1271-87_1271-76del
ENST00000686381.1:c.1007-87_1007-76del	ENSP00000509555.1:n.1007-87_1007-76del
ENST00000687065.1:c.1007-87_1007-76del	ENSP00000510408.1:n.1007-87_1007-76del
ENST00000687394.1:n.1377-87_1377-76del
ENST00000687647.1:c.1007-87_1007-76del	ENSP00000509205.1:n.1007-87_1007-76del
ENST00000688035.1:n.1686-87_1686-76del
ENST00000690315.1:c.1172-87_1172-76del	ENSP00000509834.1:n.1172-87_1172-76del
ENST00000690373.1:n.1610-87_1610-76del
ENST00000690379.1:n.1301-87_1301-76del
ENST00000690824.1:c.1271-87_1271-76del	ENSP00000510709.1:n.1271-87_1271-76del
ENST00000691661.1:c.1283-87_1283-76del	ENSP00000510185.1:n.1283-87_1283-76del
ENST00000691862.1:c.1169-87_1169-76del	ENSP00000509291.1:n.1169-87_1169-76del
ENST00000692813.1:c.1271-87_1271-76del	ENSP00000509080.1:n.1271-87_1271-76del
ENST00000692972.1:c.1346-87_1346-76del	ENSP00000510753.1:n.1346-87_1346-76del
ENST00000693454.1:n.481-87_481-76del
ENST00000693602.1:n.1364-87_1364-76del
ENST00000358951.7:c.1271-87_1271-76del MANE Select	ENSP00000351832.2:n.1271-87_1271-76del
ENST00000358951.6:c.1271-87_1271-76del	ENSP00000351832.2:n.1271-87_1271-76del
ENST00000478976.1:n.292-946_292-935del
NM_012414.3:c.1271-87_1271-76del	NP_036546.2:n.1271-87_1271-76del
NM_012414.4:c.1271-87_1271-76del MANE Select	NP_036546.2:n.1271-87_1271-76del