Canonical Allele Identifier: CA344645773

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364624A>T (hg19) ; chr1:g.220191282A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191282A>T , CM000663.2:g.220191282A>T	GRCh38
NC_000001.10:g.220364624A>T , CM000663.1:g.220364624A>T	GRCh37
NC_000001.9:g.218431247A>T	NCBI36
NG_015837.1:g.86220T>A
NG_015837.2:g.86220T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1273T>A	ENSP00000509457.1:p.Tyr425Asn
ENST00000685664.1:c.1273T>A	ENSP00000509121.1:p.Tyr425Asn
ENST00000686381.1:c.1009T>A	ENSP00000509555.1:p.Tyr337Asn
ENST00000687065.1:c.1009T>A	ENSP00000510408.1:p.Tyr337Asn
ENST00000687394.1:n.1379T>A
ENST00000687647.1:c.1009T>A	ENSP00000509205.1:p.Tyr337Asn
ENST00000688035.1:n.1688T>A
ENST00000690315.1:c.1174T>A	ENSP00000509834.1:p.Tyr392Asn
ENST00000690373.1:n.1612T>A
ENST00000690379.1:n.1303T>A
ENST00000690824.1:c.1273T>A	ENSP00000510709.1:p.Tyr425Asn
ENST00000691661.1:c.1285T>A	ENSP00000510185.1:p.Tyr429Asn
ENST00000691862.1:c.1171T>A	ENSP00000509291.1:p.Tyr391Asn
ENST00000692813.1:c.1273T>A	ENSP00000509080.1:p.Tyr425Asn
ENST00000692972.1:c.1348T>A	ENSP00000510753.1:p.Tyr450Asn
ENST00000693454.1:n.483T>A
ENST00000693602.1:n.1366T>A
ENST00000358951.7:c.1273T>A MANE Select	ENSP00000351832.2:p.Tyr425Asn
ENST00000358951.6:c.1273T>A	ENSP00000351832.2:p.Tyr425Asn
ENST00000478976.1:n.292-857T>A
NM_012414.3:c.1273T>A	NP_036546.2:p.Tyr425Asn
NM_012414.4:c.1273T>A MANE Select	NP_036546.2:p.Tyr425Asn