Canonical Allele Identifier: CA1077259987

Gene: SMN2

Linked Data

• dbSNP Id: rs1226152846
• gnomAD v3: 5-70049548-A-T
• gnomAD v4: 5-70049548-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049548A>T , CM000667.2:g.70049548A>T	GRCh38
NC_000005.9:g.69345375A>T , CM000667.1:g.69345375A>T	GRCh37
NC_000005.8:g.69381131A>T	NCBI36
NG_008728.1:g.5026A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017411.3:c.-138A>T	NP_059107.1:n.-138A>T
NM_022875.2:c.-138A>T	NP_075013.1:n.-138A>T
NM_022876.2:c.-138A>T	NP_075014.1:n.-138A>T
NM_022877.2:c.-138A>T	NP_075015.1:n.-138A>T
XR_948432.1:n.1054+61544A>T