Canonical Allele Identifier: CA212857878

Gene: ABCC2

Linked Data

• dbSNP Id: rs532267436
• gnomAD v3: 10-99830586-G-C
• gnomAD v4: 10-99830586-G-C
• MyVariant Identifiers: chr10:g.101590343G>C (hg19) ; chr10:g.99830586G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830586G>C , CM000672.2:g.99830586G>C	GRCh38
NC_000010.10:g.101590343G>C , CM000672.1:g.101590343G>C	GRCh37
NC_000010.9:g.101580333G>C	NCBI36
NG_011798.1:g.52881G>C
NG_011798.2:g.52989G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2748-130G>C MANE Select	ENSP00000497274.1:n.2748-130G>C
ENST00000370449.8:c.2748-130G>C	ENSP00000359478.4:n.2748-130G>C
NM_000392.4:c.2748-130G>C	NP_000383.1:n.2748-130G>C
XM_006717630.2:c.2052-130G>C	XP_006717693.1:n.2052-130G>C
XM_011539291.1:c.2747+153G>C	XP_011537593.1:n.2747+153G>C
XR_945604.1:n.2937-130G>C
XR_945605.1:n.2939-130G>C
NM_000392.5:c.2748-130G>C MANE Select	NP_000383.2:n.2748-130G>C
XM_006717630.3:c.2052-130G>C	XP_006717693.1:n.2052-130G>C
XM_011539291.3:c.2747+153G>C	XP_011537593.1:n.2747+153G>C
XR_945604.3:n.2991-130G>C
XR_945605.3:n.2991-130G>C