Canonical Allele Identifier: CA37563152

Gene: RAB3GAP2

Linked Data

• dbSNP Id: rs532638624
• gnomAD v2: 1-220364579-G-A
• gnomAD v4: 1-220191237-G-A
• MyVariant Identifiers: chr1:g.220364579G>A (hg19) ; chr1:g.220191237G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191237G>A , CM000663.2:g.220191237G>A	GRCh38
NC_000001.10:g.220364579G>A , CM000663.1:g.220364579G>A	GRCh37
NC_000001.9:g.218431202G>A	NCBI36
NG_015837.1:g.86265C>T
NG_015837.2:g.86265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1318C>T	ENSP00000509457.1:p.His440Tyr
ENST00000685664.1:c.1318C>T	ENSP00000509121.1:p.His440Tyr
ENST00000686381.1:c.1054C>T	ENSP00000509555.1:p.His352Tyr
ENST00000687065.1:c.1054C>T	ENSP00000510408.1:p.His352Tyr
ENST00000687394.1:n.1424C>T
ENST00000687647.1:c.1054C>T	ENSP00000509205.1:p.His352Tyr
ENST00000688035.1:n.1733C>T
ENST00000690315.1:c.1219C>T	ENSP00000509834.1:p.His407Tyr
ENST00000690373.1:n.1657C>T
ENST00000690379.1:n.1348C>T
ENST00000690824.1:c.1318C>T	ENSP00000510709.1:p.His440Tyr
ENST00000691661.1:c.1330C>T	ENSP00000510185.1:p.His444Tyr
ENST00000691862.1:c.1216C>T	ENSP00000509291.1:p.His406Tyr
ENST00000692813.1:c.1318C>T	ENSP00000509080.1:p.His440Tyr
ENST00000692972.1:c.1393C>T	ENSP00000510753.1:p.His465Tyr
ENST00000693454.1:n.528C>T
ENST00000693602.1:n.1411C>T
ENST00000358951.7:c.1318C>T MANE Select	ENSP00000351832.2:p.His440Tyr
ENST00000358951.6:c.1318C>T	ENSP00000351832.2:p.His440Tyr
ENST00000478976.1:n.292-812C>T
NM_012414.3:c.1318C>T	NP_036546.2:p.His440Tyr
NM_012414.4:c.1318C>T MANE Select	NP_036546.2:p.His440Tyr