Canonical Allele Identifier: CA1402287
Community Standard Title: NM_012414.4(RAB3GAP2):c.2981-7C>T
Gene: RAB3GAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220167406G>A , CM000663.2:g.220167406G>A GRCh38
NC_000001.10:g.220340748G>A , CM000663.1:g.220340748G>A GRCh37
NC_000001.9:g.218407371G>A NCBI36
NG_015837.1:g.110096C>T
NG_015837.2:g.110096C>T

Transcript Alleles

HGVS Amino-acid Change
NM_012414.4:c.2981-7C>T MANE Select NP_036546.2:n.2981-7C>T
ENST00000358951.7:c.2981-7C>T MANE Select ENSP00000351832.2:n.2981-7C>T
NM_012414.3:c.2981-7C>T NP_036546.2:n.2981-7C>T
ENST00000358951.6:c.2981-7C>T ENSP00000351832.2:n.2981-7C>T
ENST00000685286.1:c.*310-7C>T ENSP00000509457.1:n.*310-7C>T
ENST00000685664.1:c.2981-7C>T ENSP00000509121.1:n.2981-7C>T
ENST00000686381.1:c.2717-7C>T ENSP00000509555.1:n.2717-7C>T
ENST00000687065.1:c.2717-7C>T ENSP00000510408.1:n.2717-7C>T
ENST00000687394.1:n.3087-7C>T
ENST00000687647.1:c.2717-7C>T ENSP00000509205.1:n.2717-7C>T
ENST00000688035.1:n.3491C>T
ENST00000690315.1:c.2882-7C>T ENSP00000509834.1:n.2882-7C>T
ENST00000690373.1:n.3320-7C>T
ENST00000690824.1:c.2981-7C>T ENSP00000510709.1:n.2981-7C>T
ENST00000691661.1:c.2993-7C>T ENSP00000510185.1:n.2993-7C>T
ENST00000691862.1:c.2879-7C>T ENSP00000509291.1:n.2879-7C>T
ENST00000692813.1:c.2981-7C>T ENSP00000509080.1:n.2981-7C>T
ENST00000692972.1:c.3056-7C>T ENSP00000510753.1:n.3056-7C>T
ENST00000693602.1:n.3074-7C>T