Canonical Allele Identifier: CA560269433

Gene: SMN2

Linked Data

• gnomAD v2: 5-69345470-T-C
• gnomAD v4: 5-70049643-T-C
• MyVariant Identifiers: chr5:g.69345470_69345473delinsCAAG (hg19) ; chr5:g.70049643_70049646delinsCAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049643T>C , CM000667.2:g.70049643T>C	GRCh38
NC_000005.9:g.69345470T>C , CM000667.1:g.69345470T>C	GRCh37
NC_000005.8:g.69381226T>C	NCBI36
NG_008728.1:g.5121T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380743.8:c.-43T>C	ENSP00000370119.4:n.-43T>C
ENST00000511812.5:c.-43T>C	ENSP00000424282.1:n.-43T>C
NM_017411.3:c.-43T>C	NP_059107.1:n.-43T>C
NM_022875.2:c.-43T>C	NP_075013.1:n.-43T>C
NM_022876.2:c.-43T>C	NP_075014.1:n.-43T>C
NM_022877.2:c.-43T>C	NP_075015.1:n.-43T>C
XM_011543600.1:c.-43T>C	XP_011541902.1:n.-43T>C
XM_011543601.1:c.-43T>C	XP_011541903.1:n.-43T>C
XM_011543602.1:c.-43T>C	XP_011541904.1:n.-43T>C
XM_011543603.1:c.-43T>C	XP_011541905.1:n.-43T>C
XR_948432.1:n.1054+61639T>C
XM_011543600.2:c.-43T>C	XP_011541902.1:n.-43T>C
XM_011543602.3:c.-43T>C	XP_011541904.1:n.-43T>C
XM_011543603.3:c.-43T>C	XP_011541905.1:n.-43T>C