Canonical Allele Identifier: CA1554042342

Gene: SMN2

Linked Data

• dbSNP Id: rs1774564208

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070834_70070837del , CM000667.2:g.70070834_70070837del	GRCh38
NC_000005.9:g.69366661_69366664del , CM000667.1:g.69366661_69366664del	GRCh37
NC_000005.8:g.69402417_69402420del	NCBI36
NG_008728.1:g.26312_26315del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380743.9:c.834+83_834+86del MANE Select	ENSP00000370119.4:n.834+83_834+86del
ENST00000638794.1:c.834+83_834+86del	ENSP00000492675.1:n.834+83_834+86del
ENST00000380741.8:c.834+83_834+86del	ENSP00000370117.5:n.834+83_834+86del
ENST00000380742.8:c.738+83_738+86del	ENSP00000370118.4:n.738+83_738+86del
ENST00000380743.8:c.834+83_834+86del	ENSP00000370119.4:n.834+83_834+86del
ENST00000505346.5:n.300+83_300+86del
ENST00000506734.5:c.834+83_834+86del	ENSP00000424799.1:n.834+83_834+86del
ENST00000507458.2:c.88+83_88+86del
ENST00000509805.5:n.484_487del
ENST00000511812.5:c.633+83_633+86del	ENSP00000424282.1:n.633+83_633+86del
ENST00000514914.1:n.375+83_375+86del
ENST00000614240.4:c.738+83_738+86del	ENSP00000479279.1:n.738+83_738+86del
ENST00000626847.2:c.834+83_834+86del	ENSP00000486152.1:n.834+83_834+86del
ENST00000628696.2:c.834+83_834+86del	ENSP00000486268.1:n.834+83_834+86del
NM_017411.3:c.834+83_834+86del	NP_059107.1:n.834+83_834+86del
NM_022875.2:c.834+83_834+86del	NP_075013.1:n.834+83_834+86del
NM_022876.2:c.738+83_738+86del	NP_075014.1:n.738+83_738+86del
NM_022877.2:c.738+83_738+86del	NP_075015.1:n.738+83_738+86del
XM_011543599.1:c.834+83_834+86del	XP_011541901.1:n.834+83_834+86del
XM_011543600.1:c.633+83_633+86del	XP_011541902.1:n.633+83_633+86del
XM_011543601.1:c.633+83_633+86del	XP_011541903.1:n.633+83_633+86del
XM_011543602.1:c.537+83_537+86del	XP_011541904.1:n.537+83_537+86del
XM_011543603.1:c.537+83_537+86del	XP_011541905.1:n.537+83_537+86del
XR_948432.1:n.1054+82830_1054+82833del
XM_011543600.2:c.633+83_633+86del	XP_011541902.1:n.633+83_633+86del
XM_011543602.3:c.537+83_537+86del	XP_011541904.1:n.537+83_537+86del
XM_011543603.3:c.537+83_537+86del	XP_011541905.1:n.537+83_537+86del
XM_017009787.1:c.834+83_834+86del	XP_016865276.1:n.834+83_834+86del
NM_017411.4:c.834+83_834+86del MANE Select	NP_059107.1:n.834+83_834+86del
NM_022875.3:c.834+83_834+86del	NP_075013.1:n.834+83_834+86del