Canonical Allele Identifier: CA1554040984
Gene: SMN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049608T= , CM000667.2:g.70049608T= GRCh38
NC_000005.9:g.69345435T= , CM000667.1:g.69345435T= GRCh37
NC_000005.8:g.69381191T= NCBI36
NG_008728.1:g.5086T=

Transcript Alleles

HGVS Amino-acid Change
NM_017411.3:c.-78T= NP_059107.1:n.-78T=
NM_022875.2:c.-78T= NP_075013.1:n.-78T=
NM_022876.2:c.-78T= NP_075014.1:n.-78T=
NM_022877.2:c.-78T= NP_075015.1:n.-78T=
XR_948432.1:n.1054+61604T=