Canonical Allele Identifier: CA404018484

Gene: SLC44A2

Linked Data

• dbSNP Id: rs2066991148
• gnomAD v3: 19-10631290-T-C
• gnomAD v4: 19-10631290-T-C
• MyVariant Identifiers: chr19:g.10741966T>C (hg19) ; chr19:g.10631290T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631290T>C , CM000681.2:g.10631290T>C	GRCh38
NC_000019.9:g.10741966T>C , CM000681.1:g.10741966T>C	GRCh37
NC_000019.8:g.10602966T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.346T>C MANE Select	ENSP00000336888.4:p.Cys116Arg
ENST00000335757.9:c.346T>C	ENSP00000336888.4:p.Cys116Arg
ENST00000407327.8:c.340T>C	ENSP00000385135.3:p.Cys114Arg
ENST00000586078.5:c.346T>C	ENSP00000466664.1:p.Cys116Arg
ENST00000588409.1:c.245+3286T>C	ENSP00000468070.1:n.245+3286T>C
ENST00000588465.5:n.255T>C
ENST00000588688.5:c.187T>C	ENSP00000467552.1:p.Cys63Arg
ENST00000590382.5:c.181T>C	ENSP00000468691.1:p.Cys61Arg
ENST00000590857.5:c.-204T>C	ENSP00000465547.1:n.-204T>C
ENST00000592293.5:c.*143T>C	ENSP00000466612.1:n.*143T>C
NM_001145056.1:c.340T>C	NP_001138528.1:p.Cys114Arg
NM_020428.3:c.346T>C	NP_065161.3:p.Cys116Arg
XM_005259997.1:c.346T>C	XP_005260054.1:p.Cys116Arg
XM_005259999.1:c.340T>C	XP_005260056.1:p.Cys114Arg
NM_001363611.1:c.346T>C	NP_001350540.1:p.Cys116Arg
XM_005259999.2:c.340T>C	XP_005260056.1:p.Cys114Arg
NM_020428.4:c.346T>C MANE Select	NP_065161.3:p.Cys116Arg
NM_001145056.2:c.340T>C	NP_001138528.1:p.Cys114Arg
NM_001363611.2:c.346T>C	NP_001350540.1:p.Cys116Arg