Canonical Allele Identifier: CA505385722

Gene: SLC44A2

Linked Data

• MyVariant Identifiers: chr19:g.10741766G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631090G>T , CM000681.2:g.10631090G>T	GRCh38
NC_000019.9:g.10741766G>T , CM000681.1:g.10741766G>T	GRCh37
NC_000019.8:g.10602766G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.279G>T MANE Select	ENSP00000336888.4:p.Val93=
ENST00000335757.9:c.279G>T	ENSP00000336888.4:p.Val93=
ENST00000407327.8:c.273G>T	ENSP00000385135.3:p.Val91=
ENST00000586078.5:c.279G>T	ENSP00000466664.1:p.Val93=
ENST00000588409.1:c.245+3086G>T	ENSP00000468070.1:n.245+3086G>T
ENST00000588465.5:n.188G>T
ENST00000588688.5:c.120G>T	ENSP00000467552.1:p.Val40=
ENST00000590382.5:c.114G>T	ENSP00000468691.1:p.Val38=
ENST00000590857.5:c.-271G>T	ENSP00000465547.1:n.-271G>T
ENST00000592293.5:c.*76G>T	ENSP00000466612.1:n.*76G>T
NM_001145056.1:c.273G>T	NP_001138528.1:p.Val91=
NM_020428.3:c.279G>T	NP_065161.3:p.Val93=
XM_005259997.1:c.279G>T	XP_005260054.1:p.Val93=
XM_005259999.1:c.273G>T	XP_005260056.1:p.Val91=
NM_001363611.1:c.279G>T	NP_001350540.1:p.Val93=
XM_005259999.2:c.273G>T	XP_005260056.1:p.Val91=
NM_020428.4:c.279G>T MANE Select	NP_065161.3:p.Val93=
NM_001145056.2:c.273G>T	NP_001138528.1:p.Val91=
NM_001363611.2:c.279G>T	NP_001350540.1:p.Val93=