Canonical Allele Identifier: CA931735366

Gene: ABCC2

Linked Data

• dbSNP Id: rs2038712940
• gnomAD v3: 10-99830169-T-C
• gnomAD v4: 10-99830169-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830169T>C , CM000672.2:g.99830169T>C	GRCh38
NC_000010.10:g.101589926T>C , CM000672.1:g.101589926T>C	GRCh37
NC_000010.9:g.101579916T>C	NCBI36
NG_011798.1:g.52464T>C
NG_011798.2:g.52572T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.2621-138T>C MANE Select	ENSP00000497274.1:n.2621-138T>C
ENST00000370449.8:c.2621-138T>C	ENSP00000359478.4:n.2621-138T>C
NM_000392.4:c.2621-138T>C	NP_000383.1:n.2621-138T>C
XM_006717630.2:c.1925-138T>C	XP_006717693.1:n.1925-138T>C
XM_006717631.2:c.*48-138T>C	XP_006717694.1:n.*48-138T>C
XM_011539291.1:c.2621-138T>C	XP_011537593.1:n.2621-138T>C
XR_945604.1:n.2810-138T>C
XR_945605.1:n.2812-138T>C
NM_000392.5:c.2621-138T>C MANE Select	NP_000383.2:n.2621-138T>C
XM_006717630.3:c.1925-138T>C	XP_006717693.1:n.1925-138T>C
XM_006717631.4:c.*48-138T>C	XP_006717694.1:n.*48-138T>C
XM_011539291.3:c.2621-138T>C	XP_011537593.1:n.2621-138T>C
XR_945604.3:n.2864-138T>C
XR_945605.3:n.2864-138T>C