Canonical Allele Identifier: CA344645562

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364530T>A (hg19) ; chr1:g.220191188T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191188T>A , CM000663.2:g.220191188T>A	GRCh38
NC_000001.10:g.220364530T>A , CM000663.1:g.220364530T>A	GRCh37
NC_000001.9:g.218431153T>A	NCBI36
NG_015837.1:g.86314A>T
NG_015837.2:g.86314A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1367A>T	ENSP00000509457.1:p.Gln456Leu
ENST00000685664.1:c.1367A>T	ENSP00000509121.1:p.Gln456Leu
ENST00000686381.1:c.1103A>T	ENSP00000509555.1:p.Gln368Leu
ENST00000687065.1:c.1103A>T	ENSP00000510408.1:p.Gln368Leu
ENST00000687394.1:n.1473A>T
ENST00000687647.1:c.1103A>T	ENSP00000509205.1:p.Gln368Leu
ENST00000688035.1:n.1782A>T
ENST00000690315.1:c.1268A>T	ENSP00000509834.1:p.Gln423Leu
ENST00000690373.1:n.1706A>T
ENST00000690379.1:n.1397A>T
ENST00000690824.1:c.1367A>T	ENSP00000510709.1:p.Gln456Leu
ENST00000691661.1:c.1379A>T	ENSP00000510185.1:p.Gln460Leu
ENST00000691862.1:c.1265A>T	ENSP00000509291.1:p.Gln422Leu
ENST00000692813.1:c.1367A>T	ENSP00000509080.1:p.Gln456Leu
ENST00000692972.1:c.1442A>T	ENSP00000510753.1:p.Gln481Leu
ENST00000693454.1:n.577A>T
ENST00000693602.1:n.1460A>T
ENST00000358951.7:c.1367A>T MANE Select	ENSP00000351832.2:p.Gln456Leu
ENST00000358951.6:c.1367A>T	ENSP00000351832.2:p.Gln456Leu
ENST00000478976.1:n.292-763A>T
NM_012414.3:c.1367A>T	NP_036546.2:p.Gln456Leu
NM_012414.4:c.1367A>T MANE Select	NP_036546.2:p.Gln456Leu