Canonical Allele Identifier: CA1012499854
Community Standard Title: NM_012414.4(RAB3GAP2):c.3226-17T>C
Gene: RAB3GAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220159438A>G , CM000663.2:g.220159438A>G GRCh38
NC_000001.10:g.220332780A>G , CM000663.1:g.220332780A>G GRCh37
NC_000001.9:g.218399403A>G NCBI36
NG_015837.1:g.118064T>C
NG_015837.2:g.118064T>C

Transcript Alleles

HGVS Amino-acid Change
NM_012414.4:c.3226-17T>C MANE Select NP_036546.2:n.3226-17T>C
ENST00000358951.7:c.3226-17T>C MANE Select ENSP00000351832.2:n.3226-17T>C
NM_012414.3:c.3226-17T>C NP_036546.2:n.3226-17T>C
ENST00000358951.6:c.3226-17T>C ENSP00000351832.2:n.3226-17T>C
ENST00000474966.2:n.1218-17T>C
ENST00000491305.2:n.509-17T>C
ENST00000685286.1:c.*551-17T>C ENSP00000509457.1:n.*551-17T>C
ENST00000685664.1:c.3226-17T>C ENSP00000509121.1:n.3226-17T>C
ENST00000686381.1:c.2962-17T>C ENSP00000509555.1:n.2962-17T>C
ENST00000687065.1:c.2962-17T>C ENSP00000510408.1:n.2962-17T>C
ENST00000687394.1:n.3332-17T>C
ENST00000687647.1:c.2962-17T>C ENSP00000509205.1:n.2962-17T>C
ENST00000688035.1:n.6236-17T>C
ENST00000690315.1:c.3127-17T>C ENSP00000509834.1:n.3127-17T>C
ENST00000690373.1:n.3565-17T>C
ENST00000690824.1:c.3226-17T>C ENSP00000510709.1:n.3226-17T>C
ENST00000691661.1:c.3238-17T>C ENSP00000510185.1:n.3238-17T>C
ENST00000691862.1:c.3124-17T>C ENSP00000509291.1:n.3124-17T>C
ENST00000692813.1:c.3226-1562T>C ENSP00000509080.1:n.3226-1562T>C
ENST00000692972.1:c.3301-17T>C ENSP00000510753.1:n.3301-17T>C
ENST00000693602.1:n.5812-17T>C