Canonical Allele Identifier: CA384843556

Gene: SLC11A2

Linked Data

• gnomAD v4: 12-50992841-G-A
• MyVariant Identifiers: chr12:g.51386624G>A (hg19) ; chr12:g.50992841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50992841G>A , CM000674.2:g.50992841G>A	GRCh38
NC_000012.11:g.51386624G>A , CM000674.1:g.51386624G>A	GRCh37
NC_000012.10:g.49672891G>A	NCBI36
NG_021139.1:g.40435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394904.9:c.1253C>T	ENSP00000378364.3:p.Thr418Ile
ENST00000545993.7:c.1154C>T	ENSP00000442810.2:p.Thr385Ile
ENST00000547688.7:c.1253C>T	ENSP00000449200.2:p.Thr418Ile
ENST00000642227.1:c.*751C>T	ENSP00000494696.1:n.*751C>T
ENST00000643123.1:n.218C>T
ENST00000643884.1:c.1202C>T	ENSP00000493633.1:p.Thr401Ile
ENST00000644495.1:c.1166C>T	ENSP00000494107.1:p.Thr389Ile
ENST00000646264.1:c.736C>T
ENST00000646740.1:c.*340C>T	ENSP00000494001.1:n.*340C>T
ENST00000262051.11:c.1166C>T	ENSP00000262051.7:p.Thr389Ile
ENST00000262052.9:c.1166C>T MANE Select	ENSP00000262052.5:p.Thr389Ile
ENST00000394904.7:c.1253C>T	ENSP00000378364.3:p.Thr418Ile
ENST00000541174.6:c.1166C>T	ENSP00000444542.2:p.Thr389Ile
ENST00000545993.6:c.1154C>T	ENSP00000442810.2:p.Thr385Ile
ENST00000546636.5:c.1166C>T	ENSP00000449008.1:p.Thr389Ile
ENST00000546743.5:c.929C>T	ENSP00000446914.1:p.Thr310Ile
ENST00000547198.5:c.1166C>T	ENSP00000446769.1:p.Thr389Ile
ENST00000547688.5:c.1253C>T	ENSP00000449200.1:p.Thr418Ile
ENST00000550782.5:n.638C>T
ENST00000551231.1:n.304C>T
NM_000617.2:c.1166C>T	NP_000608.1:p.Thr389Ile
NM_001174125.1:c.1253C>T	NP_001167596.1:p.Thr418Ile
NM_001174126.1:c.1166C>T	NP_001167597.1:p.Thr389Ile
NM_001174127.1:c.1166C>T	NP_001167598.1:p.Thr389Ile
NM_001174128.1:c.1166C>T	NP_001167599.1:p.Thr389Ile
NM_001174129.1:c.1166C>T	NP_001167600.1:p.Thr389Ile
NM_001174130.1:c.1154C>T	NP_001167601.1:p.Thr385Ile
NR_033421.1:n.1231C>T
NR_033422.1:n.1306C>T
XM_005268911.2:c.1253C>T	XP_005268968.1:p.Thr418Ile
XM_005268912.3:c.1154C>T	XP_005268969.1:p.Thr385Ile
XM_005268913.2:c.1055C>T	XP_005268970.1:p.Thr352Ile
XM_005268914.2:c.1055C>T	XP_005268971.1:p.Thr352Ile
XM_011538404.1:c.1166C>T	XP_011536706.1:p.Thr389Ile
XM_011538405.1:c.1166C>T	XP_011536707.1:p.Thr389Ile
XM_011538406.1:c.929C>T	XP_011536708.1:p.Thr310Ile
XR_429104.1:n.1363C>T
XR_944555.1:n.1363C>T
XM_005268911.3:c.1253C>T	XP_005268968.1:p.Thr418Ile
XM_005268912.5:c.1154C>T	XP_005268969.1:p.Thr385Ile
XM_011538404.3:c.1166C>T	XP_011536706.1:p.Thr389Ile
XM_011538405.3:c.1166C>T	XP_011536707.1:p.Thr389Ile
XM_017019355.2:c.1166C>T	XP_016874844.1:p.Thr389Ile
XM_017019356.2:c.929C>T	XP_016874845.1:p.Thr310Ile
XR_001748720.1:n.1363C>T
XR_001748721.2:n.1281C>T
XR_001748722.2:n.1289C>T
XR_001748723.2:n.1289C>T
NM_000617.3:c.1166C>T MANE Select	NP_000608.1:p.Thr389Ile
NM_001174125.2:c.1253C>T	NP_001167596.1:p.Thr418Ile
NM_001174128.2:c.1166C>T	NP_001167599.1:p.Thr389Ile
NM_001174130.2:c.1154C>T	NP_001167601.1:p.Thr385Ile
NR_033421.2:n.1199C>T
NR_033422.2:n.1274C>T
NM_001174126.2:c.1166C>T	NP_001167597.1:p.Thr389Ile
NM_001174127.2:c.1166C>T	NP_001167598.1:p.Thr389Ile
NM_001379446.1:c.1253C>T	NP_001366375.1:p.Thr418Ile
NM_001379447.1:c.1166C>T	NP_001366376.1:p.Thr389Ile
NM_001379448.1:c.1154C>T	NP_001366377.1:p.Thr385Ile
NM_001379455.1:c.1253C>T	NP_001366384.1:p.Thr418Ile
NR_166668.1:n.1279C>T
NR_166669.1:n.1274C>T
NR_166670.1:n.1279C>T