Canonical Allele Identifier: CA346209833

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598015A>C (hg19) ; chr2:g.27375148A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375148A>C , CM000664.2:g.27375148A>C	GRCh38
NC_000002.11:g.27598015A>C , CM000664.1:g.27598015A>C	GRCh37
NC_000002.10:g.27451519A>C	NCBI36
NG_009305.1:g.310T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.769A>C MANE Select	ENSP00000233575.2:p.Lys257Gln
ENST00000233575.6:c.769A>C	ENSP00000233575.2:p.Lys257Gln
ENST00000427123.5:c.*579A>C	ENSP00000405399.1:n.*579A>C
ENST00000440760.5:c.*614A>C	ENSP00000399727.1:n.*614A>C
ENST00000453453.1:c.*296A>C	ENSP00000401922.1:n.*296A>C
ENST00000493711.1:n.486A>C
ENST00000494893.5:n.945A>C
ENST00000537606.5:c.694A>C	ENSP00000439208.1:p.Lys232Gln
NM_001267059.1:c.733A>C	NP_001253988.1:p.Lys245Gln
NM_001267060.1:c.694A>C	NP_001253989.1:p.Lys232Gln
NM_001267061.1:c.709A>C	NP_001253990.1:p.Lys237Gln
NM_014748.3:c.769A>C	NP_055563.1:p.Lys257Gln
NR_049782.1:n.1142A>C
NR_049783.1:n.1115A>C
NR_049784.1:n.1091A>C
NR_049785.1:n.1024A>C
NR_049786.1:n.973A>C
NR_049787.1:n.824A>C
NR_049788.1:n.754A>C
XM_011533203.1:c.127A>C	XP_011531505.1:p.Lys43Gln
XM_011533203.2:c.127A>C	XP_011531505.1:p.Lys43Gln
XM_017005405.2:c.127A>C	XP_016860894.1:p.Lys43Gln
NM_014748.4:c.769A>C MANE Select	NP_055563.1:p.Lys257Gln
NM_001267059.2:c.733A>C	NP_001253988.1:p.Lys245Gln
NM_001267061.2:c.709A>C	NP_001253990.1:p.Lys237Gln
NR_049782.2:n.1022A>C
NR_049783.2:n.995A>C
NR_049784.2:n.971A>C
NR_049785.2:n.904A>C
NR_049786.2:n.853A>C
NR_049787.2:n.704A>C
NR_049788.2:n.634A>C
NM_001267060.2:c.694A>C	NP_001253989.1:p.Lys232Gln