Canonical Allele Identifier: CA346210064

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375536-T-C
• MyVariant Identifiers: chr2:g.27598403T>C (hg19) ; chr2:g.27375536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375536T>C , CM000664.2:g.27375536T>C	GRCh38
NC_000002.11:g.27598403T>C , CM000664.1:g.27598403T>C	GRCh37
NC_000002.10:g.27451907T>C	NCBI36
NG_028219.1:g.10209A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.805T>C MANE Select	ENSP00000233575.2:p.Tyr269His
ENST00000233575.6:c.805T>C	ENSP00000233575.2:p.Tyr269His
ENST00000427123.5:c.*615T>C	ENSP00000405399.1:n.*615T>C
ENST00000440760.5:c.*650T>C	ENSP00000399727.1:n.*650T>C
ENST00000453453.1:c.*332T>C	ENSP00000401922.1:n.*332T>C
ENST00000493711.1:n.522T>C
ENST00000537606.5:c.730T>C	ENSP00000439208.1:p.Tyr244His
NM_001267059.1:c.769T>C	NP_001253988.1:p.Tyr257His
NM_001267060.1:c.730T>C	NP_001253989.1:p.Tyr244His
NM_001267061.1:c.745T>C	NP_001253990.1:p.Tyr249His
NM_014748.3:c.805T>C	NP_055563.1:p.Tyr269His
NR_049782.1:n.1178T>C
NR_049783.1:n.1151T>C
NR_049784.1:n.1127T>C
NR_049785.1:n.1060T>C
NR_049786.1:n.1009T>C
NR_049787.1:n.860T>C
NR_049788.1:n.790T>C
XM_011533203.1:c.163T>C	XP_011531505.1:p.Tyr55His
XM_011533203.2:c.163T>C	XP_011531505.1:p.Tyr55His
XM_017005405.2:c.163T>C	XP_016860894.1:p.Tyr55His
NM_014748.4:c.805T>C MANE Select	NP_055563.1:p.Tyr269His
NM_001267059.2:c.769T>C	NP_001253988.1:p.Tyr257His
NM_001267061.2:c.745T>C	NP_001253990.1:p.Tyr249His
NR_049782.2:n.1058T>C
NR_049783.2:n.1031T>C
NR_049784.2:n.1007T>C
NR_049785.2:n.940T>C
NR_049786.2:n.889T>C
NR_049787.2:n.740T>C
NR_049788.2:n.670T>C
NM_001267060.2:c.730T>C	NP_001253989.1:p.Tyr244His