Canonical Allele Identifier: CA243060071

Gene: SLC41A2

Linked Data

• dbSNP Id: rs948272410
• gnomAD v2: 12-105215130-A-T
• gnomAD v3: 12-104821352-A-T
• gnomAD v4: 12-104821352-A-T
• MyVariant Identifiers: chr12:g.105215130A>T (hg19) ; chr12:g.104821352A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.104821352A>T , CM000674.2:g.104821352A>T	GRCh38
NC_000012.11:g.105215130A>T , CM000674.1:g.105215130A>T	GRCh37
NC_000012.10:g.103739260A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000258538.8:c.1537-16015T>A MANE Select	ENSP00000258538.3:n.1537-16015T>A
ENST00000258538.7:c.1537-16015T>A	ENSP00000258538.3:n.1537-16015T>A
ENST00000549713.1:n.89+12739T>A
NM_032148.3:c.1537-16015T>A	NP_115524.3:n.1537-16015T>A
XM_005269176.1:c.1537-16015T>A	XP_005269233.1:n.1537-16015T>A
XM_005269178.1:c.1537-16015T>A	XP_005269235.1:n.1537-16015T>A
XM_005269179.1:c.1537-16015T>A	XP_005269236.1:n.1537-16015T>A
XM_006719630.2:c.1537-16015T>A	XP_006719693.1:n.1537-16015T>A
XM_011538807.1:c.1537-16015T>A	XP_011537109.1:n.1537-16015T>A
XM_011538808.1:c.1537-16015T>A	XP_011537110.1:n.1537-16015T>A
XM_011538809.1:c.1537-16015T>A	XP_011537111.1:n.1537-16015T>A
XM_011538810.1:c.1537-16015T>A	XP_011537112.1:n.1537-16015T>A
XM_011538811.1:c.1537-16015T>A	XP_011537113.1:n.1537-16015T>A
XM_011538812.1:c.*43+12739T>A	XP_011537114.1:n.*43+12739T>A
XM_011538813.1:c.859-16015T>A	XP_011537115.1:n.859-16015T>A
NM_001352169.1:c.1537-16015T>A	NP_001339098.1:n.1537-16015T>A
NM_001352170.1:c.1537-16015T>A	NP_001339099.1:n.1537-16015T>A
NM_001352171.1:c.1537-16015T>A	NP_001339100.1:n.1537-16015T>A
NM_001352172.1:c.1537-16015T>A	NP_001339101.1:n.1537-16015T>A
NM_032148.4:c.1537-16015T>A	NP_115524.3:n.1537-16015T>A
XM_011538810.2:c.1537-16015T>A	XP_011537112.1:n.1537-16015T>A
XM_011538811.2:c.1537-16015T>A	XP_011537113.1:n.1537-16015T>A
XM_011538813.2:c.859-16015T>A	XP_011537115.1:n.859-16015T>A
XM_017020013.1:c.1537-16015T>A	XP_016875502.1:n.1537-16015T>A
XM_017020014.1:c.*43+12739T>A	XP_016875503.1:n.*43+12739T>A
XM_017020016.2:c.904-16015T>A	XP_016875505.1:n.904-16015T>A
XM_017020017.1:c.901-16015T>A	XP_016875506.1:n.901-16015T>A
XM_024449219.1:c.1537-16015T>A	XP_024304987.1:n.1537-16015T>A
NM_001352170.2:c.1537-16015T>A	NP_001339099.1:n.1537-16015T>A
NM_001352171.2:c.1537-16015T>A	NP_001339100.1:n.1537-16015T>A
NM_001352172.2:c.1537-16015T>A	NP_001339101.1:n.1537-16015T>A
NM_032148.5:c.1537-16015T>A	NP_115524.3:n.1537-16015T>A
NM_001352169.2:c.1537-16015T>A	NP_001339098.1:n.1537-16015T>A
NM_001352170.3:c.1537-16015T>A	NP_001339099.1:n.1537-16015T>A
NM_001352171.3:c.1537-16015T>A MANE Select	NP_001339100.1:n.1537-16015T>A
NM_001352172.3:c.1537-16015T>A	NP_001339101.1:n.1537-16015T>A
NM_001387125.1:c.1537-16015T>A	NP_001374054.1:n.1537-16015T>A
NM_001387126.1:c.1537-16015T>A	NP_001374055.1:n.1537-16015T>A
NM_001387127.1:c.1537-16015T>A	NP_001374056.1:n.1537-16015T>A
NM_001387128.1:c.*43+12739T>A	NP_001374057.1:n.*43+12739T>A
NM_001387129.1:c.*43+12739T>A	NP_001374058.1:n.*43+12739T>A
NM_001387130.1:c.*43+12739T>A	NP_001374059.1:n.*43+12739T>A
NM_032148.6:c.1537-16015T>A	NP_115524.3:n.1537-16015T>A