Canonical Allele Identifier: CA1077260098

Gene: SMN2

Linked Data

• dbSNP Id: rs1774428055
• gnomAD v3: 5-70049646-G-T
• gnomAD v4: 5-70049646-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049646G>T , CM000667.2:g.70049646G>T	GRCh38
NC_000005.9:g.69345473G>T , CM000667.1:g.69345473G>T	GRCh37
NC_000005.8:g.69381229G>T	NCBI36
NG_008728.1:g.5124G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.8:c.-40G>T	ENSP00000370119.4:n.-40G>T
ENST00000511812.5:c.-40G>T	ENSP00000424282.1:n.-40G>T
NM_017411.3:c.-40G>T	NP_059107.1:n.-40G>T
NM_022875.2:c.-40G>T	NP_075013.1:n.-40G>T
NM_022876.2:c.-40G>T	NP_075014.1:n.-40G>T
NM_022877.2:c.-40G>T	NP_075015.1:n.-40G>T
XM_011543599.1:c.-40G>T	XP_011541901.1:n.-40G>T
XM_011543600.1:c.-40G>T	XP_011541902.1:n.-40G>T
XM_011543601.1:c.-40G>T	XP_011541903.1:n.-40G>T
XM_011543602.1:c.-40G>T	XP_011541904.1:n.-40G>T
XM_011543603.1:c.-40G>T	XP_011541905.1:n.-40G>T
XR_948432.1:n.1054+61642G>T
XM_011543600.2:c.-40G>T	XP_011541902.1:n.-40G>T
XM_011543602.3:c.-40G>T	XP_011541904.1:n.-40G>T
XM_011543603.3:c.-40G>T	XP_011541905.1:n.-40G>T
XM_017009787.1:c.-40G>T	XP_016865276.1:n.-40G>T