Canonical Allele Identifier: CA404017894

Gene: SLC44A2

Linked Data

• dbSNP Id: rs1212281228
• gnomAD v2: 19-10741759-A-C
• gnomAD v3: 19-10631083-A-C
• gnomAD v4: 19-10631083-A-C
• MyVariant Identifiers: chr19:g.10741759A>C (hg19) ; chr19:g.10631083A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631083A>C , CM000681.2:g.10631083A>C	GRCh38
NC_000019.9:g.10741759A>C , CM000681.1:g.10741759A>C	GRCh37
NC_000019.8:g.10602759A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.272A>C MANE Select	ENSP00000336888.4:p.Asn91Thr
ENST00000335757.9:c.272A>C	ENSP00000336888.4:p.Asn91Thr
ENST00000407327.8:c.266A>C	ENSP00000385135.3:p.Asn89Thr
ENST00000586078.5:c.272A>C	ENSP00000466664.1:p.Asn91Thr
ENST00000588409.1:c.245+3079A>C	ENSP00000468070.1:n.245+3079A>C
ENST00000588465.5:n.181A>C
ENST00000588688.5:c.113A>C	ENSP00000467552.1:p.Asn38Thr
ENST00000590382.5:c.107A>C	ENSP00000468691.1:p.Asn36Thr
ENST00000590857.5:c.-278A>C	ENSP00000465547.1:n.-278A>C
ENST00000592293.5:c.*69A>C	ENSP00000466612.1:n.*69A>C
NM_001145056.1:c.266A>C	NP_001138528.1:p.Asn89Thr
NM_020428.3:c.272A>C	NP_065161.3:p.Asn91Thr
XM_005259997.1:c.272A>C	XP_005260054.1:p.Asn91Thr
XM_005259999.1:c.266A>C	XP_005260056.1:p.Asn89Thr
NM_001363611.1:c.272A>C	NP_001350540.1:p.Asn91Thr
XM_005259999.2:c.266A>C	XP_005260056.1:p.Asn89Thr
NM_020428.4:c.272A>C MANE Select	NP_065161.3:p.Asn91Thr
NM_001145056.2:c.266A>C	NP_001138528.1:p.Asn89Thr
NM_001363611.2:c.272A>C	NP_001350540.1:p.Asn91Thr