Canonical Allele Identifier: CA5643337

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 2988165
• ClinVar RCV Id: RCV003844348
• dbSNP Id: rs762980288
• ExAC: 10:101571288 A / C
• gnomAD v2: 10-101571288-A-C
• gnomAD v4: 10-99811531-A-C
• MyVariant Identifiers: chr10:g.101571288A>C (hg19) ; chr10:g.99811531A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99811531A>C , CM000672.2:g.99811531A>C	GRCh38
NC_000010.10:g.101571288A>C , CM000672.1:g.101571288A>C	GRCh37
NC_000010.9:g.101561278A>C	NCBI36
NG_011798.1:g.33826A>C
NG_011798.2:g.33934A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.1901-5A>C MANE Select	ENSP00000497274.1:n.1901-5A>C
ENST00000370449.8:c.1901-5A>C	ENSP00000359478.4:n.1901-5A>C
NM_000392.4:c.1901-5A>C	NP_000383.1:n.1901-5A>C
XM_006717630.2:c.1205-5A>C	XP_006717693.1:n.1205-5A>C
XM_006717631.2:c.1901-5A>C	XP_006717694.1:n.1901-5A>C
XM_011539291.1:c.1901-5A>C	XP_011537593.1:n.1901-5A>C
XR_945604.1:n.2090-5A>C
XR_945605.1:n.2092-5A>C
NM_000392.5:c.1901-5A>C MANE Select	NP_000383.2:n.1901-5A>C
XM_006717630.3:c.1205-5A>C	XP_006717693.1:n.1205-5A>C
XM_006717631.4:c.1901-5A>C	XP_006717694.1:n.1901-5A>C
XM_011539291.3:c.1901-5A>C	XP_011537593.1:n.1901-5A>C
XM_017015675.2:c.1901-5A>C	XP_016871164.1:n.1901-5A>C
XR_945604.3:n.2144-5A>C
XR_945605.3:n.2144-5A>C