Canonical Allele Identifier: CA2610495975

Gene: ABCC2

Linked Data

• gnomAD v4: 10-99817316-TGCCTATGTCCCACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99817319_99817332del , CM000672.2:g.99817319_99817332del	GRCh38
NC_000010.10:g.101577076_101577089del , CM000672.1:g.101577076_101577089del	GRCh37
NC_000010.9:g.101567066_101567079del	NCBI36
NG_011798.1:g.39614_39627del
NG_011798.2:g.39722_39735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2106_2119del MANE Select	ENSP00000497274.1:p.Tyr703ValfsTer19
ENST00000370449.8:c.2106_2119del	ENSP00000359478.4:p.Tyr703ValfsTer19
NM_000392.4:c.2106_2119del	NP_000383.1:p.Tyr703ValfsTer19
XM_006717630.2:c.1410_1423del	XP_006717693.1:p.Tyr471ValfsTer19
XM_006717631.2:c.2106_2119del	XP_006717694.1:p.Tyr703ValfsTer19
XM_011539291.1:c.2106_2119del	XP_011537593.1:p.Tyr703ValfsTer19
XR_945604.1:n.2295_2308del
XR_945605.1:n.2297_2310del
NM_000392.5:c.2106_2119del MANE Select	NP_000383.2:p.Tyr703ValfsTer19
XM_006717630.3:c.1410_1423del	XP_006717693.1:p.Tyr471ValfsTer19
XM_006717631.4:c.2106_2119del	XP_006717694.1:p.Tyr703ValfsTer19
XM_011539291.3:c.2106_2119del	XP_011537593.1:p.Tyr703ValfsTer19
XM_017015675.2:c.2106_2119del	XP_016871164.1:p.Tyr703ValfsTer19
XR_945604.3:n.2349_2362del
XR_945605.3:n.2349_2362del