Canonical Allele Identifier: CA361704405

Gene: SLC26A2

Linked Data

• MyVariant Identifiers: chr5:g.149357431A>T (hg19) ; chr5:g.149977868A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149977868A>T , CM000667.2:g.149977868A>T	GRCh38
NC_000005.9:g.149357431A>T , CM000667.1:g.149357431A>T	GRCh37
NC_000005.8:g.149337624A>T	NCBI36
NG_007147.2:g.18986A>T , LRG_684:g.18986A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000690410.1:n.448A>T
ENST00000286298.5:c.216A>T MANE Select	ENSP00000286298.4:p.Lys72Asn
ENST00000286298.4:c.216A>T	ENSP00000286298.4:p.Lys72Asn
NM_000112.3:c.216A>T , LRG_684t1:c.216A>T	NP_000103.2:p.Lys72Asn
XM_017009191.2:c.216A>T	XP_016864680.1:p.Lys72Asn
NM_000112.4:c.216A>T MANE Select	NP_000103.2:p.Lys72Asn