Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27485132T>G , CM000664.2:g.27485132T>G	GRCh38
NC_000002.11:g.27707999T>G , CM000664.1:g.27707999T>G	GRCh37
NC_000002.10:g.27561503T>G	NCBI36
NG_034068.1:g.9680A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.184-2A>C MANE Select	NP_056477.1:n.184-2A>C
ENST00000260570.8:c.184-2A>C MANE Select	ENSP00000260570.3:n.184-2A>C
NM_015662.2:c.184-2A>C	NP_056477.1:n.184-2A>C
ENST00000260570.7:c.184-2A>C	ENSP00000260570.3:n.184-2A>C
ENST00000359466.10:c.184-2A>C	ENSP00000352443.6:n.184-2A>C
ENST00000416524.2:c.121-2A>C	ENSP00000407408.2:n.121-2A>C
ENST00000475476.2:n.285-2A>C
ENST00000476264.6:n.264-2A>C
ENST00000476264.7:n.274-2A>C
ENST00000507184.5:n.316-2A>C
ENST00000511842.5:n.209-2A>C
ENST00000674701.1:c.184-2A>C	ENSP00000502275.1:n.184-2A>C
ENST00000674824.1:c.121-2A>C	ENSP00000501824.1:n.121-2A>C
ENST00000674932.1:c.184-2A>C	ENSP00000501967.1:n.184-2A>C
ENST00000675410.1:c.-385-866A>C	ENSP00000502030.1:n.-385-866A>C
ENST00000675618.1:n.264-2A>C
ENST00000675690.1:c.184-2A>C	ENSP00000502283.1:n.184-2A>C
ENST00000675728.1:c.121-2A>C	ENSP00000501700.1:n.121-2A>C
ENST00000675729.1:c.184-2A>C	ENSP00000502319.1:n.184-2A>C
ENST00000675757.1:n.69-2A>C
ENST00000675925.1:n.563A>C
ENST00000675963.1:c.184-2A>C	ENSP00000502708.1:n.184-2A>C
ENST00000676119.1:c.184-2A>C	ENSP00000501701.1:n.184-2A>C
ENST00000676300.1:n.270-2A>C
XM_005264254.1:c.184-2A>C	XP_005264311.1:n.184-2A>C
XM_006711986.2:c.121-2A>C	XP_006712049.1:n.121-2A>C
XM_006711986.3:c.121-2A>C	XP_006712049.1:n.121-2A>C
XM_006711987.1:c.184-2A>C	XP_006712050.1:n.184-2A>C
XM_011532757.2:c.-697-2A>C	XP_011531059.1:n.-697-2A>C
XM_011532758.1:c.184-2A>C	XP_011531060.1:n.184-2A>C
XM_017003790.1:c.121-2A>C	XP_016859279.1:n.121-2A>C
XM_017003791.1:c.-458-2A>C	XP_016859280.1:n.-458-2A>C
XM_017003792.1:c.184-2A>C	XP_016859281.1:n.184-2A>C
XM_017003793.1:c.-1227-2A>C	XP_016859282.1:n.-1227-2A>C
XM_017003795.1:c.-1838-2A>C	XP_016859284.1:n.-1838-2A>C
XR_001738698.1:n.239-2A>C