Canonical Allele Identifier: CA529067649

Gene: RAB3GAP2

Linked Data

• dbSNP Id: rs1247004568
• gnomAD v2: 1-220364700-T-TAGTGGGGGTGGG
• gnomAD v3: 1-220191358-T-TAGTGGGGGTGGG
• gnomAD v4: 1-220191358-T-TAGTGGGGGTGGG
• MyVariant Identifiers: chr1:g.220364700_220364701insAGTGGGGGTGGG (hg19) ; chr1:g.220191358_220191359insAGTGGGGGTGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191359_220191370dup , CM000663.2:g.220191359_220191370dup	GRCh38
NC_000001.10:g.220364701_220364712dup , CM000663.1:g.220364701_220364712dup	GRCh37
NC_000001.9:g.218431324_218431335dup	NCBI36
NG_015837.1:g.86132_86143dup
NG_015837.2:g.86132_86143dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1271-86_1271-75dup	ENSP00000509457.1:n.1271-86_1271-75dup
ENST00000685664.1:c.1271-86_1271-75dup	ENSP00000509121.1:n.1271-86_1271-75dup
ENST00000686381.1:c.1007-86_1007-75dup	ENSP00000509555.1:n.1007-86_1007-75dup
ENST00000687065.1:c.1007-86_1007-75dup	ENSP00000510408.1:n.1007-86_1007-75dup
ENST00000687394.1:n.1377-86_1377-75dup
ENST00000687647.1:c.1007-86_1007-75dup	ENSP00000509205.1:n.1007-86_1007-75dup
ENST00000688035.1:n.1686-86_1686-75dup
ENST00000690315.1:c.1172-86_1172-75dup	ENSP00000509834.1:n.1172-86_1172-75dup
ENST00000690373.1:n.1610-86_1610-75dup
ENST00000690379.1:n.1301-86_1301-75dup
ENST00000690824.1:c.1271-86_1271-75dup	ENSP00000510709.1:n.1271-86_1271-75dup
ENST00000691661.1:c.1283-86_1283-75dup	ENSP00000510185.1:n.1283-86_1283-75dup
ENST00000691862.1:c.1169-86_1169-75dup	ENSP00000509291.1:n.1169-86_1169-75dup
ENST00000692813.1:c.1271-86_1271-75dup	ENSP00000509080.1:n.1271-86_1271-75dup
ENST00000692972.1:c.1346-86_1346-75dup	ENSP00000510753.1:n.1346-86_1346-75dup
ENST00000693454.1:n.481-86_481-75dup
ENST00000693602.1:n.1364-86_1364-75dup
ENST00000358951.7:c.1271-86_1271-75dup MANE Select	ENSP00000351832.2:n.1271-86_1271-75dup
ENST00000358951.6:c.1271-86_1271-75dup	ENSP00000351832.2:n.1271-86_1271-75dup
ENST00000478976.1:n.292-945_292-934dup
NM_012414.3:c.1271-86_1271-75dup	NP_036546.2:n.1271-86_1271-75dup
NM_012414.4:c.1271-86_1271-75dup MANE Select	NP_036546.2:n.1271-86_1271-75dup