Canonical Allele Identifier: CA632114149

Gene: SLC44A2

Linked Data

• dbSNP Id: rs1278001507
• gnomAD v2: 19-10741937-T-C
• gnomAD v4: 19-10631261-T-C
• MyVariant Identifiers: chr19:g.10741937T>C (hg19) ; chr19:g.10631261T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631261T>C , CM000681.2:g.10631261T>C	GRCh38
NC_000019.9:g.10741937T>C , CM000681.1:g.10741937T>C	GRCh37
NC_000019.8:g.10602937T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.331-14T>C MANE Select	ENSP00000336888.4:n.331-14T>C
ENST00000335757.9:c.331-14T>C	ENSP00000336888.4:n.331-14T>C
ENST00000407327.8:c.325-14T>C	ENSP00000385135.3:n.325-14T>C
ENST00000586078.5:c.331-14T>C	ENSP00000466664.1:n.331-14T>C
ENST00000588409.1:c.245+3257T>C	ENSP00000468070.1:n.245+3257T>C
ENST00000588465.5:n.240-14T>C
ENST00000588688.5:c.172-14T>C	ENSP00000467552.1:n.172-14T>C
ENST00000590382.5:c.166-14T>C	ENSP00000468691.1:n.166-14T>C
ENST00000590857.5:c.-219-14T>C	ENSP00000465547.1:n.-219-14T>C
ENST00000592293.5:c.*128-14T>C	ENSP00000466612.1:n.*128-14T>C
NM_001145056.1:c.325-14T>C	NP_001138528.1:n.325-14T>C
NM_020428.3:c.331-14T>C	NP_065161.3:n.331-14T>C
XM_005259997.1:c.331-14T>C	XP_005260054.1:n.331-14T>C
XM_005259999.1:c.325-14T>C	XP_005260056.1:n.325-14T>C
NM_001363611.1:c.331-14T>C	NP_001350540.1:n.331-14T>C
XM_005259999.2:c.325-14T>C	XP_005260056.1:n.325-14T>C
NM_020428.4:c.331-14T>C MANE Select	NP_065161.3:n.331-14T>C
NM_001145056.2:c.325-14T>C	NP_001138528.1:n.325-14T>C
NM_001363611.2:c.331-14T>C	NP_001350540.1:n.331-14T>C