Canonical Allele Identifier: CA560269435

Gene: SMN2

Linked Data

• dbSNP Id: rs1473707503
• gnomAD v2: 5-69345470-TAAG-T
• gnomAD v3: 5-70049643-TAAG-T
• gnomAD v4: 5-70049643-TAAG-T
• MyVariant Identifiers: chr5:g.69345471_69345473del (hg19) ; chr5:g.70049644_70049646del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049647_70049649del , CM000667.2:g.70049647_70049649del	GRCh38
NC_000005.9:g.69345474_69345476del , CM000667.1:g.69345474_69345476del	GRCh37
NC_000005.8:g.69381230_69381232del	NCBI36
NG_008728.1:g.5125_5127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.8:c.-39_-37del	ENSP00000370119.4:n.-39_-37del
ENST00000511812.5:c.-39_-37del	ENSP00000424282.1:n.-39_-37del
NM_017411.3:c.-39_-37del	NP_059107.1:n.-39_-37del
NM_022875.2:c.-39_-37del	NP_075013.1:n.-39_-37del
NM_022876.2:c.-39_-37del	NP_075014.1:n.-39_-37del
NM_022877.2:c.-39_-37del	NP_075015.1:n.-39_-37del
XM_011543599.1:c.-39_-37del	XP_011541901.1:n.-39_-37del
XM_011543600.1:c.-39_-37del	XP_011541902.1:n.-39_-37del
XM_011543601.1:c.-39_-37del	XP_011541903.1:n.-39_-37del
XM_011543602.1:c.-39_-37del	XP_011541904.1:n.-39_-37del
XM_011543603.1:c.-39_-37del	XP_011541905.1:n.-39_-37del
XR_948432.1:n.1054+61643_1054+61645del
XM_011543600.2:c.-39_-37del	XP_011541902.1:n.-39_-37del
XM_011543602.3:c.-39_-37del	XP_011541904.1:n.-39_-37del
XM_011543603.3:c.-39_-37del	XP_011541905.1:n.-39_-37del
XM_017009787.1:c.-39_-37del	XP_016865276.1:n.-39_-37del