Canonical Allele Identifier: CA354140055

Gene: SLC15A2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121924957C>A , CM000665.2:g.121924957C>A	GRCh38
NC_000003.11:g.121643804C>A , CM000665.1:g.121643804C>A	GRCh37
NC_000003.10:g.123126494C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489711.6:c.1048C>A MANE Select	ENSP00000417085.1:p.Leu350Ile
ENST00000295605.6:c.955C>A	ENSP00000295605.2:p.Leu319Ile
ENST00000489711.5:c.1048C>A	ENSP00000417085.1:p.Leu350Ile
NM_001145998.1:c.955C>A	NP_001139470.1:p.Leu319Ile
NM_021082.3:c.1048C>A	NP_066568.3:p.Leu350Ile
XM_005247722.2:c.1048C>A	XP_005247779.1:p.Leu350Ile
XM_006713736.2:c.1048C>A	XP_006713799.1:p.Leu350Ile
XM_005247722.3:c.1048C>A	XP_005247779.1:p.Leu350Ile
XM_006713736.3:c.1048C>A	XP_006713799.1:p.Leu350Ile
XM_017007074.1:c.1048C>A	XP_016862563.1:p.Leu350Ile
NM_021082.4:c.1048C>A MANE Select	NP_066568.3:p.Leu350Ile
NM_001145998.2:c.955C>A	NP_001139470.1:p.Leu319Ile