Canonical Allele Identifier: CA212867428

Gene: ABCC2

Linked Data

• dbSNP Id: rs41318033
• gnomAD v2: 10-101604418-C-T
• gnomAD v3: 10-99844661-C-T
• gnomAD v4: 10-99844661-C-T
• MyVariant Identifiers: chr10:g.101604418C>T (hg19) ; chr10:g.99844661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844661C>T , CM000672.2:g.99844661C>T	GRCh38
NC_000010.10:g.101604418C>T , CM000672.1:g.101604418C>T	GRCh37
NC_000010.9:g.101594408C>T	NCBI36
NG_011798.1:g.66956C>T
NG_011798.2:g.67064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3987+196C>T MANE Select	ENSP00000497274.1:n.3987+196C>T
ENST00000649459.1:n.335+196C>T
ENST00000370449.8:c.3987+196C>T	ENSP00000359478.4:n.3987+196C>T
NM_000392.4:c.3987+196C>T	NP_000383.1:n.3987+196C>T
XM_006717630.2:c.3291+196C>T	XP_006717693.1:n.3291+196C>T
XR_945604.1:n.4176+196C>T
XR_945605.1:n.4051+196C>T
NM_000392.5:c.3987+196C>T MANE Select	NP_000383.2:n.3987+196C>T
XM_006717630.3:c.3291+196C>T	XP_006717693.1:n.3291+196C>T
XR_945604.3:n.4230+196C>T
XR_945605.3:n.4103+196C>T