Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222294165A>T , CM000664.2:g.222294165A>T	GRCh38
NC_000002.11:g.223158884A>T , CM000664.1:g.223158884A>T	GRCh37
NC_000002.10:g.222867128A>T	NCBI36
NG_011632.1:g.9817T>A
NG_021186.1:g.1019A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181458.4:c.586+2T>A MANE Select	NP_852123.1:n.586+2T>A
ENST00000392070.7:c.586+2T>A MANE Select	ENSP00000375922.3:n.586+2T>A
NM_000438.5:c.588T>A	NP_000429.2:p.Gly196=
NM_000438.6:c.588T>A	NP_000429.2:p.Gly196=
NM_001127366.2:c.583+2T>A	NP_001120838.1:n.583+2T>A
NM_001127366.3:c.583+2T>A	NP_001120838.1:n.583+2T>A
NM_013942.4:c.586+2T>A	NP_039230.1:n.586+2T>A
NM_013942.5:c.586+2T>A	NP_039230.1:n.586+2T>A
NM_181457.3:c.586+2T>A	NP_852122.1:n.586+2T>A
NM_181457.4:c.586+2T>A	NP_852122.1:n.586+2T>A
NM_181458.3:c.586+2T>A	NP_852123.1:n.586+2T>A
NM_181459.3:c.586+2T>A	NP_852124.1:n.586+2T>A
NM_181459.4:c.586+2T>A	NP_852124.1:n.586+2T>A
NM_181460.3:c.586+2T>A	NP_852125.1:n.586+2T>A
NM_181460.4:c.586+2T>A	NP_852125.1:n.586+2T>A
NM_181461.3:c.586+2T>A	NP_852126.1:n.586+2T>A
NM_181461.4:c.586+2T>A	NP_852126.1:n.586+2T>A
ENST00000258387.5:c.586+2T>A	ENSP00000258387.5:n.586+2T>A
ENST00000258387.6:c.586+2T>A	ENSP00000258387.5:n.586+2T>A
ENST00000336840.10:c.586+2T>A	ENSP00000338767.5:n.586+2T>A
ENST00000336840.11:c.586+2T>A	ENSP00000338767.5:n.586+2T>A
ENST00000344493.8:c.586+2T>A	ENSP00000342092.4:n.586+2T>A
ENST00000344493.9:c.586+2T>A	ENSP00000342092.4:n.586+2T>A
ENST00000350526.8:c.586+2T>A	ENSP00000343052.4:n.586+2T>A
ENST00000350526.9:c.586+2T>A	ENSP00000343052.4:n.586+2T>A
ENST00000392069.6:c.586+2T>A	ENSP00000375921.2:n.586+2T>A
ENST00000392070.6:c.586+2T>A	ENSP00000375922.2:n.586+2T>A
ENST00000409551.7:c.583+2T>A	ENSP00000386750.3:n.583+2T>A
ENST00000409828.7:c.588T>A	ENSP00000386817.3:p.Gly196=
ENST00000644490.1:n.28+2T>A
ENST00000647467.1:n.967+2T>A
XM_011511278.1:c.730+2T>A	XP_011509580.1:n.730+2T>A
XM_011511280.1:c.730+2T>A	XP_011509582.1:n.730+2T>A
XM_011511281.1:c.730+2T>A	XP_011509583.1:n.730+2T>A