Canonical Allele Identifier: CA229138

Gene: SLC20A2

Linked Data

• ClinVar Variation Id: 100856
• ClinVar RCV Id: RCV000087218
• dbSNP Id: rs483352733
• gnomAD v2: 8-42323372-A-G
• gnomAD v3: 8-42465854-A-G
• gnomAD v4: 8-42465854-A-G
• MyVariant Identifiers: chr8:g.42323372A>G (hg19) ; chr8:g.42465854A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42465854A>G , CM000670.2:g.42465854A>G	GRCh38
NC_000008.10:g.42323372A>G , CM000670.1:g.42323372A>G	GRCh37
NC_000008.9:g.42442529A>G	NCBI36
NG_032161.1:g.78985T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520262.6:c.353T>C MANE Select	ENSP00000429754.1:p.Ile118Thr
ENST00000342228.7:c.353T>C	ENSP00000340465.3:p.Ile118Thr
ENST00000520179.5:c.353T>C	ENSP00000429712.1:p.Ile118Thr
ENST00000520262.5:c.353T>C	ENSP00000429754.1:p.Ile118Thr
ENST00000524211.1:c.*170T>C	ENSP00000429989.1:n.*170T>C
NM_001257180.1:c.353T>C	NP_001244109.1:p.Ile118Thr
NM_001257181.1:c.353T>C	NP_001244110.1:p.Ile118Thr
NM_006749.4:c.353T>C	NP_006740.1:p.Ile118Thr
XM_005273613.2:c.353T>C	XP_005273670.1:p.Ile118Thr
XM_005273615.2:c.353T>C	XP_005273672.1:p.Ile118Thr
XM_006716390.2:c.290-2764T>C	XP_006716453.1:n.290-2764T>C
XM_006716391.2:c.-59T>C	XP_006716454.1:n.-59T>C
XM_005273613.4:c.353T>C	XP_005273670.1:p.Ile118Thr
XM_005273615.4:c.353T>C	XP_005273672.1:p.Ile118Thr
XM_006716390.4:c.290-2764T>C	XP_006716453.1:n.290-2764T>C
XM_006716391.4:c.-59T>C	XP_006716454.1:n.-59T>C
XM_017013748.1:c.353T>C	XP_016869237.1:p.Ile118Thr
XM_017013749.2:c.290-2764T>C	XP_016869238.1:n.290-2764T>C
XM_017013750.2:c.-59T>C	XP_016869239.1:n.-59T>C
XM_017013751.2:c.-59T>C	XP_016869240.1:n.-59T>C
XM_017013752.2:c.-59T>C	XP_016869241.1:n.-59T>C
XM_024447235.1:c.353T>C	XP_024303003.1:p.Ile118Thr
XM_024447236.1:c.353T>C	XP_024303004.1:p.Ile118Thr
XM_024447237.1:c.290-2764T>C	XP_024303005.1:n.290-2764T>C
NM_001257180.2:c.353T>C MANE Select	NP_001244109.1:p.Ile118Thr
NM_006749.5:c.353T>C	NP_006740.1:p.Ile118Thr
NM_001257181.2:c.353T>C	NP_001244110.1:p.Ile118Thr