Canonical Allele Identifier: CA10575791

Gene: DYNC2LI1 ABCG5

Linked Data

• ClinVar Variation Id: 212767
• ClinVar RCV Id: RCV000239685 ; RCV000754098
• dbSNP Id: rs879255655
• gnomAD v4: 2-43809711-G-T
• MyVariant Identifiers: chr2:g.44036850G>T (hg19) ; chr2:g.43809711G>T (hg38)
• PubMed: PMID:26077881

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43809711G>T , CM000664.2:g.43809711G>T	GRCh38
NC_000002.11:g.44036850G>T , CM000664.1:g.44036850G>T	GRCh37
NC_000002.10:g.43890354G>T	NCBI36
NG_053008.1:g.40673G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260605.12:c.1000G>T (DYNC2LI1) MANE Select	ENSP00000260605.8:p.Glu334Ter
ENST00000605786.5:c.1003G>T (DYNC2LI1)	ENSP00000474032.1:p.Glu335Ter
NM_001193464.1:c.1003G>T (DYNC2LI1)	NP_001180393.1:p.Glu335Ter
NM_016008.3:c.1000G>T (DYNC2LI1)	NP_057092.2:p.Glu334Ter
XM_005264364.3:c.997-670G>T (DYNC2LI1)	XP_005264421.1:n.997-670G>T
XM_005264365.3:c.994-670G>T (DYNC2LI1)	XP_005264422.1:n.994-670G>T
XM_006712073.2:c.1763-3300C>A (ABCG5)	XP_006712136.1:n.1763-3300C>A
NM_001348912.1:c.994-670G>T (DYNC2LI1)	NP_001335841.1:n.994-670G>T
NM_001348913.1:c.997-670G>T (DYNC2LI1)	NP_001335842.1:n.997-670G>T
XM_006712073.3:c.1763-3300C>A (ABCG5)	XP_006712136.1:n.1763-3300C>A
NM_016008.4:c.1000G>T (DYNC2LI1) MANE Select	NP_057092.2:p.Glu334Ter
NM_001193464.2:c.1003G>T (DYNC2LI1)	NP_001180393.1:p.Glu335Ter
NM_001348912.2:c.994-670G>T (DYNC2LI1)	NP_001335841.1:n.994-670G>T
NM_001348913.2:c.997-670G>T (DYNC2LI1)	NP_001335842.1:n.997-670G>T