Canonical Allele Identifier: CA346209778

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375122-A-C
• MyVariant Identifiers: chr2:g.27597989A>C (hg19) ; chr2:g.27375122A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375122A>C , CM000664.2:g.27375122A>C	GRCh38
NC_000002.11:g.27597989A>C , CM000664.1:g.27597989A>C	GRCh37
NC_000002.10:g.27451493A>C	NCBI36
NG_009305.1:g.336T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.743A>C MANE Select	ENSP00000233575.2:p.Lys248Thr
ENST00000233575.6:c.743A>C	ENSP00000233575.2:p.Lys248Thr
ENST00000427123.5:c.*553A>C	ENSP00000405399.1:n.*553A>C
ENST00000440760.5:c.*588A>C	ENSP00000399727.1:n.*588A>C
ENST00000453453.1:c.*270A>C	ENSP00000401922.1:n.*270A>C
ENST00000493711.1:n.460A>C
ENST00000494893.5:n.919A>C
ENST00000537606.5:c.668A>C	ENSP00000439208.1:p.Lys223Thr
NM_001267059.1:c.707A>C	NP_001253988.1:p.Lys236Thr
NM_001267060.1:c.668A>C	NP_001253989.1:p.Lys223Thr
NM_001267061.1:c.683A>C	NP_001253990.1:p.Lys228Thr
NM_014748.3:c.743A>C	NP_055563.1:p.Lys248Thr
NR_049782.1:n.1116A>C
NR_049783.1:n.1089A>C
NR_049784.1:n.1065A>C
NR_049785.1:n.998A>C
NR_049786.1:n.947A>C
NR_049787.1:n.798A>C
NR_049788.1:n.728A>C
XM_011533203.1:c.101A>C	XP_011531505.1:p.Lys34Thr
XM_011533203.2:c.101A>C	XP_011531505.1:p.Lys34Thr
XM_017005405.2:c.101A>C	XP_016860894.1:p.Lys34Thr
NM_014748.4:c.743A>C MANE Select	NP_055563.1:p.Lys248Thr
NM_001267059.2:c.707A>C	NP_001253988.1:p.Lys236Thr
NM_001267061.2:c.683A>C	NP_001253990.1:p.Lys228Thr
NR_049782.2:n.996A>C
NR_049783.2:n.969A>C
NR_049784.2:n.945A>C
NR_049785.2:n.878A>C
NR_049786.2:n.827A>C
NR_049787.2:n.678A>C
NR_049788.2:n.608A>C
NM_001267060.2:c.668A>C	NP_001253989.1:p.Lys223Thr