Canonical Allele Identifier: CA1402820
Community Standard Title: NM_012414.4(RAB3GAP2):c.960+13T>G
Gene: RAB3GAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220196237A>C , CM000663.2:g.220196237A>C GRCh38
NC_000001.10:g.220369579A>C , CM000663.1:g.220369579A>C GRCh37
NC_000001.9:g.218436202A>C NCBI36
NG_015837.1:g.81265T>G
NG_015837.2:g.81265T>G

Transcript Alleles

HGVS Amino-acid Change
NM_012414.4:c.960+13T>G MANE Select NP_036546.2:n.960+13T>G
ENST00000358951.7:c.960+13T>G MANE Select ENSP00000351832.2:n.960+13T>G
NM_012414.3:c.960+13T>G NP_036546.2:n.960+13T>G
ENST00000237724.9:n.768T>G
ENST00000358951.6:c.960+13T>G ENSP00000351832.2:n.960+13T>G
ENST00000478976.1:n.292-5812T>G
ENST00000685286.1:c.960+13T>G ENSP00000509457.1:n.960+13T>G
ENST00000685664.1:c.960+13T>G ENSP00000509121.1:n.960+13T>G
ENST00000686381.1:c.696+13T>G ENSP00000509555.1:n.696+13T>G
ENST00000687065.1:c.696+13T>G ENSP00000510408.1:n.696+13T>G
ENST00000687394.1:n.1066+13T>G
ENST00000687647.1:c.696+13T>G ENSP00000509205.1:n.696+13T>G
ENST00000688035.1:n.1375+13T>G
ENST00000690315.1:c.861+13T>G ENSP00000509834.1:n.861+13T>G
ENST00000690373.1:n.1299+13T>G
ENST00000690379.1:n.990+13T>G
ENST00000690824.1:c.960+13T>G ENSP00000510709.1:n.960+13T>G
ENST00000691661.1:c.972+13T>G ENSP00000510185.1:n.972+13T>G
ENST00000691862.1:c.858+13T>G ENSP00000509291.1:n.858+13T>G
ENST00000692813.1:c.960+13T>G ENSP00000509080.1:n.960+13T>G
ENST00000692972.1:c.1035+13T>G ENSP00000510753.1:n.1035+13T>G
ENST00000693602.1:n.1053+13T>G