Canonical Allele Identifier: CA2674141844
Gene: SMN2 HGNC NCBI

Linked Data

gnomAD v4: 5-70049608-T-G
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Genomic Alleles

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

Transcript Alleles

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