Canonical Allele Identifier: CA1402084

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220153997C>A , CM000663.2:g.220153997C>A	GRCh38
NC_000001.10:g.220327339C>A , CM000663.1:g.220327339C>A	GRCh37
NC_000001.9:g.218393962C>A	NCBI36
NG_015837.1:g.123505G>T
NG_015837.2:g.123505G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012414.4:c.3616G>T MANE Select	NP_036546.2:p.Asp1206Tyr
ENST00000358951.7:c.3616G>T MANE Select	ENSP00000351832.2:p.Asp1206Tyr
NM_012414.3:c.3616G>T	NP_036546.2:p.Asp1206Tyr
ENST00000358951.6:c.3616G>T	ENSP00000351832.2:p.Asp1206Tyr
ENST00000474966.2:n.1608G>T
ENST00000491005.5:n.64G>T
ENST00000491005.6:n.4642G>T
ENST00000491305.1:n.432G>T
ENST00000491305.2:n.4111G>T
ENST00000685286.1:c.*941G>T	ENSP00000509457.1:n.*941G>T
ENST00000685664.1:c.3616G>T	ENSP00000509121.1:p.Asp1206Tyr
ENST00000686381.1:c.3352G>T	ENSP00000509555.1:p.Asp1118Tyr
ENST00000687065.1:c.3352G>T	ENSP00000510408.1:p.Asp1118Tyr
ENST00000687394.1:n.3722G>T
ENST00000687647.1:c.3352G>T	ENSP00000509205.1:p.Asp1118Tyr
ENST00000688035.1:n.6626G>T
ENST00000690315.1:c.3517G>T	ENSP00000509834.1:p.Asp1173Tyr
ENST00000690373.1:n.3955G>T
ENST00000690824.1:c.3616G>T	ENSP00000510709.1:p.Asp1206Tyr
ENST00000691661.1:c.3628G>T	ENSP00000510185.1:p.Asp1210Tyr
ENST00000691862.1:c.3514G>T	ENSP00000509291.1:p.Asp1172Tyr
ENST00000692813.1:c.3580G>T	ENSP00000509080.1:p.Asp1194Tyr
ENST00000692972.1:c.3691G>T	ENSP00000510753.1:p.Asp1231Tyr
ENST00000693602.1:n.6202G>T