Canonical Allele Identifier: CA605025359

Gene: SLC11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50986427T>G , CM000674.2:g.50986427T>G	GRCh38
NC_000012.11:g.51380210T>G , CM000674.1:g.51380210T>G	GRCh37
NC_000012.10:g.49666477T>G	NCBI36
NG_021139.1:g.46849A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000617.3:c.*1898A>C MANE Select	NP_000608.1:n.*1898A>C
ENST00000262052.9:c.*1898A>C MANE Select	ENSP00000262052.5:n.*1898A>C
NM_000617.2:c.*1898A>C	NP_000608.1:n.*1898A>C
NM_001174125.1:c.*1898A>C	NP_001167596.1:n.*1898A>C
NM_001174125.2:c.*1898A>C	NP_001167596.1:n.*1898A>C
NM_001174126.1:c.1629+1955A>C	NP_001167597.1:n.1629+1955A>C
NM_001174126.2:c.1629+1955A>C	NP_001167597.1:n.1629+1955A>C
NM_001174127.1:c.1629+1955A>C	NP_001167598.1:n.1629+1955A>C
NM_001174127.2:c.1629+1955A>C	NP_001167598.1:n.1629+1955A>C
NM_001174128.1:c.*1898A>C	NP_001167599.1:n.*1898A>C
NM_001174128.2:c.*1898A>C	NP_001167599.1:n.*1898A>C
NM_001174129.1:c.*1898A>C	NP_001167600.1:n.*1898A>C
NM_001174130.1:c.*1898A>C	NP_001167601.1:n.*1898A>C
NM_001174130.2:c.*1898A>C	NP_001167601.1:n.*1898A>C
NM_001379446.1:c.1716+1955A>C	NP_001366375.1:n.1716+1955A>C
NM_001379447.1:c.1629+1955A>C	NP_001366376.1:n.1629+1955A>C
NM_001379448.1:c.1617+1955A>C	NP_001366377.1:n.1617+1955A>C
NM_001379455.1:c.*1898A>C	NP_001366384.1:n.*1898A>C
NR_033421.1:n.3649A>C
NR_033421.2:n.3617A>C
NR_033422.1:n.1769+1955A>C
NR_033422.2:n.1737+1955A>C
NR_166668.1:n.1742+1955A>C
NR_166669.1:n.1737+1955A>C
NR_166670.1:n.1742+1955A>C
ENST00000262051.11:c.1629+1955A>C	ENSP00000262051.7:n.1629+1955A>C
ENST00000394904.7:c.*1898A>C	ENSP00000378364.3:n.*1898A>C
ENST00000394904.9:c.*1898A>C	ENSP00000378364.3:n.*1898A>C
ENST00000546636.5:c.1629+1955A>C	ENSP00000449008.1:n.1629+1955A>C
ENST00000547198.5:c.1629+1955A>C	ENSP00000446769.1:n.1629+1955A>C
ENST00000547688.7:c.1716+1955A>C	ENSP00000449200.2:n.1716+1955A>C
ENST00000550782.5:n.3056A>C
ENST00000551215.5:c.302+1955A>C
ENST00000642227.1:c.*3169A>C	ENSP00000494696.1:n.*3169A>C
ENST00000643123.1:n.2748A>C
ENST00000643884.1:c.*25+1873A>C	ENSP00000493633.1:n.*25+1873A>C
ENST00000644495.1:c.1629+1955A>C	ENSP00000494107.1:n.1629+1955A>C
ENST00000646264.1:c.1311+1955A>C
ENST00000646740.1:c.*2870A>C	ENSP00000494001.1:n.*2870A>C
XM_005268911.2:c.1716+1955A>C	XP_005268968.1:n.1716+1955A>C
XM_005268911.3:c.1716+1955A>C	XP_005268968.1:n.1716+1955A>C
XM_005268912.3:c.1617+1955A>C	XP_005268969.1:n.1617+1955A>C
XM_005268912.5:c.1617+1955A>C	XP_005268969.1:n.1617+1955A>C
XM_005268913.2:c.1518+1955A>C	XP_005268970.1:n.1518+1955A>C
XM_005268914.2:c.1518+1955A>C	XP_005268971.1:n.1518+1955A>C
XM_011538404.1:c.1629+1955A>C	XP_011536706.1:n.1629+1955A>C
XM_011538404.3:c.1629+1955A>C	XP_011536706.1:n.1629+1955A>C
XM_011538405.1:c.1629+1955A>C	XP_011536707.1:n.1629+1955A>C
XM_011538405.3:c.1629+1955A>C	XP_011536707.1:n.1629+1955A>C
XM_011538406.1:c.1392+1955A>C	XP_011536708.1:n.1392+1955A>C
XM_017019355.2:c.1629+1955A>C	XP_016874844.1:n.1629+1955A>C
XM_017019356.2:c.1392+1955A>C	XP_016874845.1:n.1392+1955A>C
XR_001748720.1:n.1826+1955A>C
XR_001748721.2:n.1744+1955A>C
XR_001748722.2:n.1752+1955A>C
XR_001748723.2:n.1752+1955A>C
XR_429104.1:n.1826+1955A>C
XR_944555.1:n.1826+1955A>C