Canonical Allele Identifier: CA426703577
Gene: SPR HGNC NCBI

Linked Data

gnomAD v4: 2-72891444-G-T
MyVariant Identifiers: chr2:g.73118573G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891444G>T , CM000664.2:g.72891444G>T GRCh38
NC_000002.11:g.73118573G>T , CM000664.1:g.73118573G>T GRCh37
NC_000002.10:g.72972081G>T NCBI36
NG_008234.1:g.9062G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.693G>T MANE Select ENSP00000234454.5:p.Leu231=
ENST00000234454.5:c.693G>T ENSP00000234454.5:p.Leu231=
ENST00000498749.1:n.638G>T
NM_003124.4:c.693G>T NP_003115.1:p.Leu231=
NM_003124.5:c.693G>T MANE Select NP_003115.1:p.Leu231=