Canonical Allele Identifier: CA670630557

Gene: ABCC2

Linked Data

• dbSNP Id: rs1206406639
• gnomAD v3: 10-99830589-TTG-T
• gnomAD v4: 10-99830589-TTG-T
• MyVariant Identifiers: chr10:g.101590347_101590348del (hg19) ; chr10:g.99830590_99830591del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830593_99830594del , CM000672.2:g.99830593_99830594del	GRCh38
NC_000010.10:g.101590350_101590351del , CM000672.1:g.101590350_101590351del	GRCh37
NC_000010.9:g.101580340_101580341del	NCBI36
NG_011798.1:g.52888_52889del
NG_011798.2:g.52996_52997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2748-123_2748-122del MANE Select	ENSP00000497274.1:n.2748-123_2748-122del
ENST00000370449.8:c.2748-123_2748-122del	ENSP00000359478.4:n.2748-123_2748-122del
NM_000392.4:c.2748-123_2748-122del	NP_000383.1:n.2748-123_2748-122del
XM_006717630.2:c.2052-123_2052-122del	XP_006717693.1:n.2052-123_2052-122del
XM_011539291.1:c.2747+160_2747+161del	XP_011537593.1:n.2747+160_2747+161del
XR_945604.1:n.2937-123_2937-122del
XR_945605.1:n.2939-123_2939-122del
NM_000392.5:c.2748-123_2748-122del MANE Select	NP_000383.2:n.2748-123_2748-122del
XM_006717630.3:c.2052-123_2052-122del	XP_006717693.1:n.2052-123_2052-122del
XM_011539291.3:c.2747+160_2747+161del	XP_011537593.1:n.2747+160_2747+161del
XR_945604.3:n.2991-123_2991-122del
XR_945605.3:n.2991-123_2991-122del