Canonical Allele Identifier: CA505385759

Gene: SLC44A2

Linked Data

• gnomAD v4: 19-10631108-G-C
• MyVariant Identifiers: chr19:g.10741784G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631108G>C , CM000681.2:g.10631108G>C	GRCh38
NC_000019.9:g.10741784G>C , CM000681.1:g.10741784G>C	GRCh37
NC_000019.8:g.10602784G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.297G>C MANE Select	ENSP00000336888.4:p.Leu99=
ENST00000335757.9:c.297G>C	ENSP00000336888.4:p.Leu99=
ENST00000407327.8:c.291G>C	ENSP00000385135.3:p.Leu97=
ENST00000586078.5:c.297G>C	ENSP00000466664.1:p.Leu99=
ENST00000588409.1:c.245+3104G>C	ENSP00000468070.1:n.245+3104G>C
ENST00000588465.5:n.206G>C
ENST00000588688.5:c.138G>C	ENSP00000467552.1:p.Leu46=
ENST00000590382.5:c.132G>C	ENSP00000468691.1:p.Leu44=
ENST00000590857.5:c.-253G>C	ENSP00000465547.1:n.-253G>C
ENST00000592293.5:c.*94G>C	ENSP00000466612.1:n.*94G>C
NM_001145056.1:c.291G>C	NP_001138528.1:p.Leu97=
NM_020428.3:c.297G>C	NP_065161.3:p.Leu99=
XM_005259997.1:c.297G>C	XP_005260054.1:p.Leu99=
XM_005259999.1:c.291G>C	XP_005260056.1:p.Leu97=
NM_001363611.1:c.297G>C	NP_001350540.1:p.Leu99=
XM_005259999.2:c.291G>C	XP_005260056.1:p.Leu97=
NM_020428.4:c.297G>C MANE Select	NP_065161.3:p.Leu99=
NM_001145056.2:c.291G>C	NP_001138528.1:p.Leu97=
NM_001363611.2:c.297G>C	NP_001350540.1:p.Leu99=