Canonical Allele Identifier: CA2568271

Gene: SLC15A2

Linked Data

• dbSNP Id: rs1143671
• ExAC: 3:121647286 C / T
• gnomAD v2: 3-121647286-C-T
• gnomAD v3: 3-121928439-C-T
• gnomAD v4: 3-121928439-C-T
• MyVariant Identifiers: chr3:g.121647286C>T (hg19) ; chr3:g.121928439C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121928439C>T , CM000665.2:g.121928439C>T	GRCh38
NC_000003.11:g.121647286C>T , CM000665.1:g.121647286C>T	GRCh37
NC_000003.10:g.123129976C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000489711.6:c.1225C>T MANE Select	ENSP00000417085.1:p.Pro409Ser
ENST00000295605.6:c.1132C>T	ENSP00000295605.2:p.Pro378Ser
ENST00000465060.1:n.148C>T
ENST00000489711.5:c.1225C>T	ENSP00000417085.1:p.Pro409Ser
ENST00000489957.1:n.200C>T
NM_001145998.1:c.1132C>T	NP_001139470.1:p.Pro378Ser
NM_021082.3:c.1225C>T	NP_066568.3:p.Pro409Ser
XM_005247722.2:c.1225C>T	XP_005247779.1:p.Pro409Ser
XM_006713736.2:c.1225C>T	XP_006713799.1:p.Pro409Ser
XM_005247722.3:c.1225C>T	XP_005247779.1:p.Pro409Ser
XM_006713736.3:c.1225C>T	XP_006713799.1:p.Pro409Ser
XM_017007074.1:c.1225C>T	XP_016862563.1:p.Pro409Ser
NM_021082.4:c.1225C>T MANE Select	NP_066568.3:p.Pro409Ser
NM_001145998.2:c.1132C>T	NP_001139470.1:p.Pro378Ser