Canonical Allele Identifier: CA404018432

Gene: SLC44A2

Linked Data

• gnomAD v4: 19-10631282-T-C
• COSMIC: COSM5388568 ; COSM5388569
• MyVariant Identifiers: chr19:g.10741958T>C (hg19) ; chr19:g.10631282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631282T>C , CM000681.2:g.10631282T>C	GRCh38
NC_000019.9:g.10741958T>C , CM000681.1:g.10741958T>C	GRCh37
NC_000019.8:g.10602958T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.338T>C MANE Select	ENSP00000336888.4:p.Val113Ala
ENST00000335757.9:c.338T>C	ENSP00000336888.4:p.Val113Ala
ENST00000407327.8:c.332T>C	ENSP00000385135.3:p.Val111Ala
ENST00000586078.5:c.338T>C	ENSP00000466664.1:p.Val113Ala
ENST00000588409.1:c.245+3278T>C	ENSP00000468070.1:n.245+3278T>C
ENST00000588465.5:n.247T>C
ENST00000588688.5:c.179T>C	ENSP00000467552.1:p.Val60Ala
ENST00000590382.5:c.173T>C	ENSP00000468691.1:p.Val58Ala
ENST00000590857.5:c.-212T>C	ENSP00000465547.1:n.-212T>C
ENST00000592293.5:c.*135T>C	ENSP00000466612.1:n.*135T>C
NM_001145056.1:c.332T>C	NP_001138528.1:p.Val111Ala
NM_020428.3:c.338T>C	NP_065161.3:p.Val113Ala
XM_005259997.1:c.338T>C	XP_005260054.1:p.Val113Ala
XM_005259999.1:c.332T>C	XP_005260056.1:p.Val111Ala
NM_001363611.1:c.338T>C	NP_001350540.1:p.Val113Ala
XM_005259999.2:c.332T>C	XP_005260056.1:p.Val111Ala
NM_020428.4:c.338T>C MANE Select	NP_065161.3:p.Val113Ala
NM_001145056.2:c.332T>C	NP_001138528.1:p.Val111Ala
NM_001363611.2:c.338T>C	NP_001350540.1:p.Val113Ala