Canonical Allele Identifier: CA532703115

Gene: ABCG8

Linked Data

• dbSNP Id: rs1360667671
• gnomAD v2: 2-44073524-C-CT
• gnomAD v3: 2-43846385-C-CT
• gnomAD v4: 2-43846385-C-CT
• MyVariant Identifiers: chr2:g.44073524_44073525insT (hg19) ; chr2:g.43846385_43846386insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846387dup , CM000664.2:g.43846387dup	GRCh38
NC_000002.11:g.44073526dup , CM000664.1:g.44073526dup	GRCh37
NC_000002.10:g.43927030dup	NCBI36
NG_008884.1:g.12424dup
NG_008884.2:g.19446dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+76dup MANE Select	ENSP00000272286.2:n.322+76dup
ENST00000643284.1:n.855dup
ENST00000644611.1:c.334+76dup	ENSP00000495423.1:n.334+76dup
ENST00000272286.2:c.322+76dup	ENSP00000272286.2:n.322+76dup
NM_022437.2:c.322+76dup	NP_071882.1:n.322+76dup
XM_005264483.2:c.322+76dup	XP_005264540.1:n.322+76dup
XM_011533029.1:c.334+76dup	XP_011531331.1:n.334+76dup
XM_011533030.1:c.334+76dup	XP_011531332.1:n.334+76dup
XM_011533031.1:c.106+76dup	XP_011531333.1:n.106+76dup
XR_939707.1:n.824+76dup
NM_001357321.1:c.322+76dup	NP_001344250.1:n.322+76dup
XM_011533029.2:c.334+76dup	XP_011531331.1:n.334+76dup
XM_011533030.2:c.334+76dup	XP_011531332.1:n.334+76dup
XR_001738891.1:n.838+76dup
XR_939707.2:n.838+76dup
NM_022437.3:c.322+76dup MANE Select	NP_071882.1:n.322+76dup
NM_001357321.2:c.322+76dup	NP_001344250.1:n.322+76dup