Canonical Allele Identifier: CA1077259982

Gene: SMN2

Linked Data

• dbSNP Id: rs1275073027
• gnomAD v3: 5-70049543-T-C
• gnomAD v4: 5-70049543-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049543T>C , CM000667.2:g.70049543T>C	GRCh38
NC_000005.9:g.69345370T>C , CM000667.1:g.69345370T>C	GRCh37
NC_000005.8:g.69381126T>C	NCBI36
NG_008728.1:g.5021T>C

Transcript Alleles

HGVS	Amino-acid change
NM_017411.3:c.-143T>C	NP_059107.1:n.-143T>C
NM_022875.2:c.-143T>C	NP_075013.1:n.-143T>C
NM_022876.2:c.-143T>C	NP_075014.1:n.-143T>C
NM_022877.2:c.-143T>C	NP_075015.1:n.-143T>C
XR_948432.1:n.1054+61539T>C