Canonical Allele Identifier: CA404018274

Gene: SLC44A2

Linked Data

• MyVariant Identifiers: chr19:g.10741817G>C (hg19) ; chr19:g.10631141G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631141G>C , CM000681.2:g.10631141G>C	GRCh38
NC_000019.9:g.10741817G>C , CM000681.1:g.10741817G>C	GRCh37
NC_000019.8:g.10602817G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.330G>C MANE Select	ENSP00000336888.4:p.Gln110His
ENST00000335757.9:c.330G>C	ENSP00000336888.4:p.Gln110His
ENST00000407327.8:c.324G>C	ENSP00000385135.3:p.Gln108His
ENST00000586078.5:c.330G>C	ENSP00000466664.1:p.Gln110His
ENST00000588409.1:c.245+3137G>C	ENSP00000468070.1:n.245+3137G>C
ENST00000588465.5:n.239G>C
ENST00000588688.5:c.171G>C	ENSP00000467552.1:p.Gln57His
ENST00000590382.5:c.165G>C	ENSP00000468691.1:p.Gln55His
ENST00000590857.5:c.-220G>C	ENSP00000465547.1:n.-220G>C
ENST00000592293.5:c.*127G>C	ENSP00000466612.1:n.*127G>C
NM_001145056.1:c.324G>C	NP_001138528.1:p.Gln108His
NM_020428.3:c.330G>C	NP_065161.3:p.Gln110His
XM_005259997.1:c.330G>C	XP_005260054.1:p.Gln110His
XM_005259999.1:c.324G>C	XP_005260056.1:p.Gln108His
NM_001363611.1:c.330G>C	NP_001350540.1:p.Gln110His
XM_005259999.2:c.324G>C	XP_005260056.1:p.Gln108His
NM_020428.4:c.330G>C MANE Select	NP_065161.3:p.Gln110His
NM_001145056.2:c.324G>C	NP_001138528.1:p.Gln108His
NM_001363611.2:c.330G>C	NP_001350540.1:p.Gln110His