Canonical Allele Identifier: CA531449152

Gene: SNX17

Linked Data

• dbSNP Id: rs369513234
• gnomAD v2: 2-27598061-A-C
• gnomAD v4: 2-27375194-A-C
• MyVariant Identifiers: chr2:g.27598061A>C (hg19) ; chr2:g.27375194A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375194A>C , CM000664.2:g.27375194A>C	GRCh38
NC_000002.11:g.27598061A>C , CM000664.1:g.27598061A>C	GRCh37
NC_000002.10:g.27451565A>C	NCBI36
NG_009305.1:g.264T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.774+41A>C MANE Select	ENSP00000233575.2:n.774+41A>C
ENST00000233575.6:c.774+41A>C	ENSP00000233575.2:n.774+41A>C
ENST00000427123.5:c.*584+41A>C	ENSP00000405399.1:n.*584+41A>C
ENST00000440760.5:c.*619+41A>C	ENSP00000399727.1:n.*619+41A>C
ENST00000453453.1:c.*301+41A>C	ENSP00000401922.1:n.*301+41A>C
ENST00000493711.1:n.491+41A>C
ENST00000494893.5:n.950+41A>C
ENST00000537606.5:c.699+41A>C	ENSP00000439208.1:n.699+41A>C
NM_001267059.1:c.738+41A>C	NP_001253988.1:n.738+41A>C
NM_001267060.1:c.699+41A>C	NP_001253989.1:n.699+41A>C
NM_001267061.1:c.714+41A>C	NP_001253990.1:n.714+41A>C
NM_014748.3:c.774+41A>C	NP_055563.1:n.774+41A>C
NR_049782.1:n.1147+41A>C
NR_049783.1:n.1120+41A>C
NR_049784.1:n.1096+41A>C
NR_049785.1:n.1029+41A>C
NR_049786.1:n.978+41A>C
NR_049787.1:n.829+41A>C
NR_049788.1:n.759+41A>C
XM_011533203.1:c.132+41A>C	XP_011531505.1:n.132+41A>C
XM_011533203.2:c.132+41A>C	XP_011531505.1:n.132+41A>C
XM_017005405.2:c.132+41A>C	XP_016860894.1:n.132+41A>C
NM_014748.4:c.774+41A>C MANE Select	NP_055563.1:n.774+41A>C
NM_001267059.2:c.738+41A>C	NP_001253988.1:n.738+41A>C
NM_001267061.2:c.714+41A>C	NP_001253990.1:n.714+41A>C
NR_049782.2:n.1027+41A>C
NR_049783.2:n.1000+41A>C
NR_049784.2:n.976+41A>C
NR_049785.2:n.909+41A>C
NR_049786.2:n.858+41A>C
NR_049787.2:n.709+41A>C
NR_049788.2:n.639+41A>C
NM_001267060.2:c.699+41A>C	NP_001253989.1:n.699+41A>C