Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43975089A>G , CM000664.2:g.43975089A>G	GRCh38
NC_000002.11:g.44202228A>G , CM000664.1:g.44202228A>G	GRCh37
NC_000002.10:g.44055732A>G	NCBI36
NG_008247.1:g.25917T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.864+2T>C	ENSP00000386562.2:n.864+2T>C
ENST00000409946.6:c.864+2T>C	ENSP00000386234.1:n.864+2T>C
ENST00000447246.2:c.864+2T>C	ENSP00000403637.2:n.864+2T>C
ENST00000681959.1:n.478+2T>C
ENST00000681961.1:n.884+2T>C
ENST00000682104.1:c.738+2T>C	ENSP00000507716.1:n.738+2T>C
ENST00000682303.1:c.*736+2T>C	ENSP00000508325.1:n.*736+2T>C
ENST00000682308.1:c.864+2T>C	ENSP00000507056.1:n.864+2T>C
ENST00000682480.1:c.864+2T>C	ENSP00000508344.1:n.864+2T>C
ENST00000682546.1:c.864+2T>C	ENSP00000508188.1:n.864+2T>C
ENST00000682585.1:c.864+2T>C	ENSP00000506885.1:n.864+2T>C
ENST00000682595.1:n.879+2T>C
ENST00000682779.1:c.855+2T>C	ENSP00000507947.1:n.855+2T>C
ENST00000682885.1:c.864+2T>C	ENSP00000508036.1:n.864+2T>C
ENST00000682999.1:n.584T>C
ENST00000683072.1:n.879+2T>C
ENST00000683082.1:n.882+2T>C
ENST00000683125.1:c.864+2T>C	ENSP00000507939.1:n.864+2T>C
ENST00000683213.1:c.864+2T>C	ENSP00000507751.1:n.864+2T>C
ENST00000683220.1:c.864+2T>C	ENSP00000507151.1:n.864+2T>C
ENST00000683329.1:n.1667+2T>C
ENST00000683346.1:c.*736+2T>C	ENSP00000507458.1:n.*736+2T>C
ENST00000683459.1:n.884+2T>C
ENST00000683590.1:c.864+2T>C	ENSP00000506820.1:n.864+2T>C
ENST00000683623.1:c.864+2T>C	ENSP00000507702.1:n.864+2T>C
ENST00000683796.1:c.*736+2T>C	ENSP00000508221.1:n.*736+2T>C
ENST00000683802.1:n.700+2T>C
ENST00000683833.1:c.855+2T>C	ENSP00000506852.1:n.855+2T>C
ENST00000683934.1:c.518+2T>C
ENST00000683989.1:c.864+2T>C	ENSP00000507510.1:n.864+2T>C
ENST00000683994.1:c.864+2T>C	ENSP00000507181.1:n.864+2T>C
ENST00000684290.1:c.864+2T>C	ENSP00000507243.1:n.864+2T>C
ENST00000684306.1:c.*777+2T>C	ENSP00000508384.1:n.*777+2T>C
ENST00000684341.1:n.884+2T>C
ENST00000684383.1:c.*502+2T>C	ENSP00000506863.1:n.*502+2T>C
ENST00000684482.1:c.518+2T>C
ENST00000684619.1:c.*736+2T>C	ENSP00000508088.1:n.*736+2T>C
ENST00000260665.12:c.864+2T>C MANE Select	ENSP00000260665.7:n.864+2T>C
ENST00000260665.11:c.864+2T>C	ENSP00000260665.7:n.864+2T>C
ENST00000409659.5:c.864+2T>C	ENSP00000386562.1:n.864+2T>C
ENST00000409946.5:c.864+2T>C	ENSP00000386234.1:n.864+2T>C
ENST00000447246.1:c.786+2T>C	ENSP00000403637.1:n.786+2T>C
NM_133259.3:c.864+2T>C	NP_573566.2:n.864+2T>C
XM_006711915.2:c.786+2T>C	XP_006711978.1:n.786+2T>C
XM_006711916.2:c.864+2T>C	XP_006711979.1:n.864+2T>C
XM_011532473.1:c.864+2T>C	XP_011530775.1:n.864+2T>C
XM_011532474.1:c.864+2T>C	XP_011530776.1:n.864+2T>C
XM_006711916.3:c.864+2T>C	XP_006711979.1:n.864+2T>C
XM_017003117.1:c.786+2T>C	XP_016858606.1:n.786+2T>C
XR_002958896.1:n.906+2T>C
NM_133259.4:c.864+2T>C MANE Select	NP_573566.2:n.864+2T>C

Linked Data

Genomic Alleles

Transcript Alleles