Canonical Allele Identifier: CA2582408702

Gene: SLC44A2

Linked Data

• gnomAD v4: 19-10631172-T-TCTCCCCGCTTCCCATCCTTTTCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631175_10631199dup , CM000681.2:g.10631175_10631199dup	GRCh38
NC_000019.9:g.10741851_10741875dup , CM000681.1:g.10741851_10741875dup	GRCh37
NC_000019.8:g.10602851_10602875dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.330+34_330+58dup MANE Select	ENSP00000336888.4:n.330+34_330+58dup
ENST00000335757.9:c.330+34_330+58dup	ENSP00000336888.4:n.330+34_330+58dup
ENST00000407327.8:c.324+34_324+58dup	ENSP00000385135.3:n.324+34_324+58dup
ENST00000586078.5:c.330+34_330+58dup	ENSP00000466664.1:n.330+34_330+58dup
ENST00000588409.1:c.245+3171_245+3195dup	ENSP00000468070.1:n.245+3171_245+3195dup
ENST00000588465.5:n.239+34_239+58dup
ENST00000588688.5:c.171+34_171+58dup	ENSP00000467552.1:n.171+34_171+58dup
ENST00000590382.5:c.165+34_165+58dup	ENSP00000468691.1:n.165+34_165+58dup
ENST00000590857.5:c.-220+34_-220+58dup	ENSP00000465547.1:n.-220+34_-220+58dup
ENST00000592293.5:c.*127+34_*127+58dup	ENSP00000466612.1:n.*127+34_*127+58dup
NM_001145056.1:c.324+34_324+58dup	NP_001138528.1:n.324+34_324+58dup
NM_020428.3:c.330+34_330+58dup	NP_065161.3:n.330+34_330+58dup
XM_005259997.1:c.330+34_330+58dup	XP_005260054.1:n.330+34_330+58dup
XM_005259999.1:c.324+34_324+58dup	XP_005260056.1:n.324+34_324+58dup
NM_001363611.1:c.330+34_330+58dup	NP_001350540.1:n.330+34_330+58dup
XM_005259999.2:c.324+34_324+58dup	XP_005260056.1:n.324+34_324+58dup
NM_020428.4:c.330+34_330+58dup MANE Select	NP_065161.3:n.330+34_330+58dup
NM_001145056.2:c.324+34_324+58dup	NP_001138528.1:n.324+34_324+58dup
NM_001363611.2:c.330+34_330+58dup	NP_001350540.1:n.330+34_330+58dup