Canonical Allele Identifier: CA44524439

Gene: SNX17

Linked Data

• dbSNP Id: rs567950041
• gnomAD v3: 2-27375278-A-C
• gnomAD v4: 2-27375278-A-C
• MyVariant Identifiers: chr2:g.27598145A>C (hg19) ; chr2:g.27375278A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375278A>C , CM000664.2:g.27375278A>C	GRCh38
NC_000002.11:g.27598145A>C , CM000664.1:g.27598145A>C	GRCh37
NC_000002.10:g.27451649A>C	NCBI36
NG_009305.1:g.180T>G
NG_028219.1:g.10467T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.774+125A>C MANE Select	ENSP00000233575.2:n.774+125A>C
ENST00000233575.6:c.774+125A>C	ENSP00000233575.2:n.774+125A>C
ENST00000427123.5:c.*584+125A>C	ENSP00000405399.1:n.*584+125A>C
ENST00000440760.5:c.*619+125A>C	ENSP00000399727.1:n.*619+125A>C
ENST00000453453.1:c.*301+125A>C	ENSP00000401922.1:n.*301+125A>C
ENST00000493711.1:n.491+125A>C
ENST00000494893.5:n.950+125A>C
ENST00000537606.5:c.699+125A>C	ENSP00000439208.1:n.699+125A>C
NM_001267059.1:c.738+125A>C	NP_001253988.1:n.738+125A>C
NM_001267060.1:c.699+125A>C	NP_001253989.1:n.699+125A>C
NM_001267061.1:c.714+125A>C	NP_001253990.1:n.714+125A>C
NM_014748.3:c.774+125A>C	NP_055563.1:n.774+125A>C
NR_049782.1:n.1147+125A>C
NR_049783.1:n.1120+125A>C
NR_049784.1:n.1096+125A>C
NR_049785.1:n.1029+125A>C
NR_049786.1:n.978+125A>C
NR_049787.1:n.829+125A>C
NR_049788.1:n.759+125A>C
XM_011533203.1:c.132+125A>C	XP_011531505.1:n.132+125A>C
XM_011533203.2:c.132+125A>C	XP_011531505.1:n.132+125A>C
XM_017005405.2:c.132+125A>C	XP_016860894.1:n.132+125A>C
NM_014748.4:c.774+125A>C MANE Select	NP_055563.1:n.774+125A>C
NM_001267059.2:c.738+125A>C	NP_001253988.1:n.738+125A>C
NM_001267061.2:c.714+125A>C	NP_001253990.1:n.714+125A>C
NR_049782.2:n.1027+125A>C
NR_049783.2:n.1000+125A>C
NR_049784.2:n.976+125A>C
NR_049785.2:n.909+125A>C
NR_049786.2:n.858+125A>C
NR_049787.2:n.709+125A>C
NR_049788.2:n.639+125A>C
NM_001267060.2:c.699+125A>C	NP_001253989.1:n.699+125A>C