Canonical Allele Identifier: CA993478729

Gene: SLC44A2

Linked Data

• dbSNP Id: rs2066992638
• gnomAD v3: 19-10631402-C-T
• gnomAD v4: 19-10631402-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631402C>T , CM000681.2:g.10631402C>T	GRCh38
NC_000019.9:g.10742078C>T , CM000681.1:g.10742078C>T	GRCh37
NC_000019.8:g.10603078C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000335757.10:c.441+17C>T MANE Select	ENSP00000336888.4:n.441+17C>T
ENST00000335757.9:c.441+17C>T	ENSP00000336888.4:n.441+17C>T
ENST00000407327.8:c.435+17C>T	ENSP00000385135.3:n.435+17C>T
ENST00000586078.5:c.441+17C>T	ENSP00000466664.1:n.441+17C>T
ENST00000588409.1:c.246-3354C>T	ENSP00000468070.1:n.246-3354C>T
ENST00000588465.5:n.350+17C>T
ENST00000588688.5:c.282+17C>T	ENSP00000467552.1:n.282+17C>T
ENST00000590382.5:c.276+17C>T	ENSP00000468691.1:n.276+17C>T
ENST00000590857.5:c.-109+17C>T	ENSP00000465547.1:n.-109+17C>T
ENST00000592293.5:c.*238+17C>T	ENSP00000466612.1:n.*238+17C>T
NM_001145056.1:c.435+17C>T	NP_001138528.1:n.435+17C>T
NM_020428.3:c.441+17C>T	NP_065161.3:n.441+17C>T
XM_005259997.1:c.441+17C>T	XP_005260054.1:n.441+17C>T
XM_005259999.1:c.435+17C>T	XP_005260056.1:n.435+17C>T
NM_001363611.1:c.441+17C>T	NP_001350540.1:n.441+17C>T
XM_005259999.2:c.435+17C>T	XP_005260056.1:n.435+17C>T
NM_020428.4:c.441+17C>T MANE Select	NP_065161.3:n.441+17C>T
NM_001145056.2:c.435+17C>T	NP_001138528.1:n.435+17C>T
NM_001363611.2:c.441+17C>T	NP_001350540.1:n.441+17C>T