Canonical Allele Identifier: CA1402470

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 235683
• ClinVar RCV Id: RCV000224837 ; RCV000347930 ; RCV000528699 ; RCV000283527 ; RCV000502830 ; RCV004541363
• dbSNP Id: rs139337049
• ExAC: 1:220355619 G / A
• gnomAD v2: 1-220355619-G-A
• gnomAD v3: 1-220182277-G-A
• gnomAD v4: 1-220182277-G-A
• MyVariant Identifiers: chr1:g.220355619G>A (hg19) ; chr1:g.220182277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220182277G>A , CM000663.2:g.220182277G>A	GRCh38
NC_000001.10:g.220355619G>A , CM000663.1:g.220355619G>A	GRCh37
NC_000001.9:g.218422242G>A	NCBI36
NG_015837.1:g.95225C>T
NG_015837.2:g.95225C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.2290C>T	ENSP00000509457.1:p.Leu764Phe
ENST00000685664.1:c.2290C>T	ENSP00000509121.1:p.Leu764Phe
ENST00000686381.1:c.2026C>T	ENSP00000509555.1:p.Leu676Phe
ENST00000687065.1:c.2026C>T	ENSP00000510408.1:p.Leu676Phe
ENST00000687394.1:n.2396C>T
ENST00000687647.1:c.2026C>T	ENSP00000509205.1:p.Leu676Phe
ENST00000688035.1:n.2705C>T
ENST00000690315.1:c.2191C>T	ENSP00000509834.1:p.Leu731Phe
ENST00000690373.1:n.2629C>T
ENST00000690824.1:c.2290C>T	ENSP00000510709.1:p.Leu764Phe
ENST00000691661.1:c.2302C>T	ENSP00000510185.1:p.Leu768Phe
ENST00000691862.1:c.2188C>T	ENSP00000509291.1:p.Leu730Phe
ENST00000692813.1:c.2290C>T	ENSP00000509080.1:p.Leu764Phe
ENST00000692972.1:c.2365C>T	ENSP00000510753.1:p.Leu789Phe
ENST00000693454.1:n.1500C>T
ENST00000693602.1:n.2383C>T
ENST00000358951.7:c.2290C>T MANE Select	ENSP00000351832.2:p.Leu764Phe
ENST00000358951.6:c.2290C>T	ENSP00000351832.2:p.Leu764Phe
NM_012414.3:c.2290C>T	NP_036546.2:p.Leu764Phe
NM_012414.4:c.2290C>T MANE Select	NP_036546.2:p.Leu764Phe