Canonical Allele Identifier: CA344645777

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364627C>A (hg19) ; chr1:g.220191285C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191285C>A , CM000663.2:g.220191285C>A	GRCh38
NC_000001.10:g.220364627C>A , CM000663.1:g.220364627C>A	GRCh37
NC_000001.9:g.218431250C>A	NCBI36
NG_015837.1:g.86217G>T
NG_015837.2:g.86217G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1271-1G>T	ENSP00000509457.1:n.1271-1G>T
ENST00000685664.1:c.1271-1G>T	ENSP00000509121.1:n.1271-1G>T
ENST00000686381.1:c.1007-1G>T	ENSP00000509555.1:n.1007-1G>T
ENST00000687065.1:c.1007-1G>T	ENSP00000510408.1:n.1007-1G>T
ENST00000687394.1:n.1377-1G>T
ENST00000687647.1:c.1007-1G>T	ENSP00000509205.1:n.1007-1G>T
ENST00000688035.1:n.1686-1G>T
ENST00000690315.1:c.1172-1G>T	ENSP00000509834.1:n.1172-1G>T
ENST00000690373.1:n.1610-1G>T
ENST00000690379.1:n.1301-1G>T
ENST00000690824.1:c.1271-1G>T	ENSP00000510709.1:n.1271-1G>T
ENST00000691661.1:c.1283-1G>T	ENSP00000510185.1:n.1283-1G>T
ENST00000691862.1:c.1169-1G>T	ENSP00000509291.1:n.1169-1G>T
ENST00000692813.1:c.1271-1G>T	ENSP00000509080.1:n.1271-1G>T
ENST00000692972.1:c.1346-1G>T	ENSP00000510753.1:n.1346-1G>T
ENST00000693454.1:n.481-1G>T
ENST00000693602.1:n.1364-1G>T
ENST00000358951.7:c.1271-1G>T MANE Select	ENSP00000351832.2:n.1271-1G>T
ENST00000358951.6:c.1271-1G>T	ENSP00000351832.2:n.1271-1G>T
ENST00000478976.1:n.292-860G>T
NM_012414.3:c.1271-1G>T	NP_036546.2:n.1271-1G>T
NM_012414.4:c.1271-1G>T MANE Select	NP_036546.2:n.1271-1G>T