Canonical Allele Identifier: CA632114158

Gene: SLC44A2

Linked Data

• dbSNP Id: rs1191593849
• gnomAD v2: 19-10742111-C-CTAGA
• gnomAD v3: 19-10631435-C-CTAGA
• gnomAD v4: 19-10631435-C-CTAGA
• MyVariant Identifiers: chr19:g.10742111_10742112insTAGA (hg19) ; chr19:g.10631435_10631436insTAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631436_10631439dup , CM000681.2:g.10631436_10631439dup	GRCh38
NC_000019.9:g.10742112_10742115dup , CM000681.1:g.10742112_10742115dup	GRCh37
NC_000019.8:g.10603112_10603115dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.442-39_442-36dup MANE Select	ENSP00000336888.4:n.442-39_442-36dup
ENST00000335757.9:c.442-39_442-36dup	ENSP00000336888.4:n.442-39_442-36dup
ENST00000407327.8:c.436-39_436-36dup	ENSP00000385135.3:n.436-39_436-36dup
ENST00000586078.5:c.442-39_442-36dup	ENSP00000466664.1:n.442-39_442-36dup
ENST00000588409.1:c.246-3320_246-3317dup	ENSP00000468070.1:n.246-3320_246-3317dup
ENST00000588465.5:n.351-39_351-36dup
ENST00000588688.5:c.283-39_283-36dup	ENSP00000467552.1:n.283-39_283-36dup
ENST00000590382.5:c.277-39_277-36dup	ENSP00000468691.1:n.277-39_277-36dup
ENST00000590857.5:c.-108-39_-108-36dup	ENSP00000465547.1:n.-108-39_-108-36dup
ENST00000592293.5:c.*239-39_*239-36dup	ENSP00000466612.1:n.*239-39_*239-36dup
NM_001145056.1:c.436-39_436-36dup	NP_001138528.1:n.436-39_436-36dup
NM_020428.3:c.442-39_442-36dup	NP_065161.3:n.442-39_442-36dup
XM_005259997.1:c.442-39_442-36dup	XP_005260054.1:n.442-39_442-36dup
XM_005259999.1:c.436-39_436-36dup	XP_005260056.1:n.436-39_436-36dup
NM_001363611.1:c.442-39_442-36dup	NP_001350540.1:n.442-39_442-36dup
XM_005259999.2:c.436-39_436-36dup	XP_005260056.1:n.436-39_436-36dup
NM_020428.4:c.442-39_442-36dup MANE Select	NP_065161.3:n.442-39_442-36dup
NM_001145056.2:c.436-39_436-36dup	NP_001138528.1:n.436-39_436-36dup
NM_001363611.2:c.442-39_442-36dup	NP_001350540.1:n.442-39_442-36dup