Canonical Allele Identifier: CA346210083

Gene: SNX17

Linked Data

• dbSNP Id: rs1683110395
• gnomAD v3: 2-27375540-G-C
• gnomAD v4: 2-27375540-G-C
• MyVariant Identifiers: chr2:g.27598407G>C (hg19) ; chr2:g.27375540G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375540G>C , CM000664.2:g.27375540G>C	GRCh38
NC_000002.11:g.27598407G>C , CM000664.1:g.27598407G>C	GRCh37
NC_000002.10:g.27451911G>C	NCBI36
NG_028219.1:g.10205C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.809G>C MANE Select	ENSP00000233575.2:p.Gly270Ala
ENST00000233575.6:c.809G>C	ENSP00000233575.2:p.Gly270Ala
ENST00000427123.5:c.*619G>C	ENSP00000405399.1:n.*619G>C
ENST00000440760.5:c.*654G>C	ENSP00000399727.1:n.*654G>C
ENST00000453453.1:c.*336G>C	ENSP00000401922.1:n.*336G>C
ENST00000493711.1:n.526G>C
ENST00000537606.5:c.734G>C	ENSP00000439208.1:p.Gly245Ala
NM_001267059.1:c.773G>C	NP_001253988.1:p.Gly258Ala
NM_001267060.1:c.734G>C	NP_001253989.1:p.Gly245Ala
NM_001267061.1:c.749G>C	NP_001253990.1:p.Gly250Ala
NM_014748.3:c.809G>C	NP_055563.1:p.Gly270Ala
NR_049782.1:n.1182G>C
NR_049783.1:n.1155G>C
NR_049784.1:n.1131G>C
NR_049785.1:n.1064G>C
NR_049786.1:n.1013G>C
NR_049787.1:n.864G>C
NR_049788.1:n.794G>C
XM_011533203.1:c.167G>C	XP_011531505.1:p.Gly56Ala
XM_011533203.2:c.167G>C	XP_011531505.1:p.Gly56Ala
XM_017005405.2:c.167G>C	XP_016860894.1:p.Gly56Ala
NM_014748.4:c.809G>C MANE Select	NP_055563.1:p.Gly270Ala
NM_001267059.2:c.773G>C	NP_001253988.1:p.Gly258Ala
NM_001267061.2:c.749G>C	NP_001253990.1:p.Gly250Ala
NR_049782.2:n.1062G>C
NR_049783.2:n.1035G>C
NR_049784.2:n.1011G>C
NR_049785.2:n.944G>C
NR_049786.2:n.893G>C
NR_049787.2:n.744G>C
NR_049788.2:n.674G>C
NM_001267060.2:c.734G>C	NP_001253989.1:p.Gly245Ala