Canonical Allele Identifier: CA305238627

Gene: SLC44A2

Linked Data

• dbSNP Id: rs1054210036
• gnomAD v4: 19-10631502-G-T
• MyVariant Identifiers: chr19:g.10742178G>T (hg19) ; chr19:g.10631502G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631502G>T , CM000681.2:g.10631502G>T	GRCh38
NC_000019.9:g.10742178G>T , CM000681.1:g.10742178G>T	GRCh37
NC_000019.8:g.10603178G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000335757.10:c.469G>T MANE Select	ENSP00000336888.4:p.Asp157Tyr
ENST00000335757.9:c.469G>T	ENSP00000336888.4:p.Asp157Tyr
ENST00000407327.8:c.463G>T	ENSP00000385135.3:p.Asp155Tyr
ENST00000586078.5:c.469G>T	ENSP00000466664.1:p.Asp157Tyr
ENST00000588409.1:c.246-3254G>T	ENSP00000468070.1:n.246-3254G>T
ENST00000588465.5:n.378G>T
ENST00000588688.5:c.310G>T	ENSP00000467552.1:p.Asp104Tyr
ENST00000590382.5:c.304G>T	ENSP00000468691.1:p.Asp102Tyr
ENST00000590857.5:c.-81G>T	ENSP00000465547.1:n.-81G>T
ENST00000592293.5:c.*266G>T	ENSP00000466612.1:n.*266G>T
NM_001145056.1:c.463G>T	NP_001138528.1:p.Asp155Tyr
NM_020428.3:c.469G>T	NP_065161.3:p.Asp157Tyr
XM_005259997.1:c.469G>T	XP_005260054.1:p.Asp157Tyr
XM_005259999.1:c.463G>T	XP_005260056.1:p.Asp155Tyr
NM_001363611.1:c.469G>T	NP_001350540.1:p.Asp157Tyr
XM_005259999.2:c.463G>T	XP_005260056.1:p.Asp155Tyr
NM_020428.4:c.469G>T MANE Select	NP_065161.3:p.Asp157Tyr
NM_001145056.2:c.463G>T	NP_001138528.1:p.Asp155Tyr
NM_001363611.2:c.469G>T	NP_001350540.1:p.Asp157Tyr