Canonical Allele Identifier: CA1402048

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220153295G>A , CM000663.2:g.220153295G>A	GRCh38
NC_000001.10:g.220326637G>A , CM000663.1:g.220326637G>A	GRCh37
NC_000001.9:g.218393260G>A	NCBI36
NG_015837.1:g.124207C>T
NG_015837.2:g.124207C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012414.4:c.3757C>T MANE Select	NP_036546.2:p.Pro1253Ser
ENST00000358951.7:c.3757C>T MANE Select	ENSP00000351832.2:p.Pro1253Ser
NM_012414.3:c.3757C>T	NP_036546.2:p.Pro1253Ser
ENST00000358951.6:c.3757C>T	ENSP00000351832.2:p.Pro1253Ser
ENST00000474966.1:n.428C>T
ENST00000474966.2:n.1749C>T
ENST00000491005.5:n.205C>T
ENST00000491005.6:n.4783C>T
ENST00000491305.1:n.573C>T
ENST00000491305.2:n.4252C>T
ENST00000685286.1:c.*1082C>T	ENSP00000509457.1:n.*1082C>T
ENST00000685664.1:c.3757C>T	ENSP00000509121.1:p.Pro1253Ser
ENST00000686381.1:c.3493C>T	ENSP00000509555.1:p.Pro1165Ser
ENST00000687065.1:c.3493C>T	ENSP00000510408.1:p.Pro1165Ser
ENST00000687394.1:n.3863C>T
ENST00000687647.1:c.3493C>T	ENSP00000509205.1:p.Pro1165Ser
ENST00000688035.1:n.6767C>T
ENST00000690315.1:c.3658C>T	ENSP00000509834.1:p.Pro1220Ser
ENST00000690373.1:n.4096C>T
ENST00000690824.1:c.3757C>T	ENSP00000510709.1:p.Pro1253Ser
ENST00000691661.1:c.3769C>T	ENSP00000510185.1:p.Pro1257Ser
ENST00000691862.1:c.3655C>T	ENSP00000509291.1:p.Pro1219Ser
ENST00000692813.1:c.3721C>T	ENSP00000509080.1:p.Pro1241Ser
ENST00000692972.1:c.3832C>T	ENSP00000510753.1:p.Pro1278Ser
ENST00000693602.1:n.6343C>T