Canonical Allele Identifier: CA5643974

Gene: ABCC2

Linked Data

• dbSNP Id: rs752740593
• ExAC: 10:101604049 AACTT / A
• gnomAD v2: 10-101604049-AACTT-A
• gnomAD v3: 10-99844292-AACTT-A
• gnomAD v4: 10-99844292-AACTT-A
• MyVariant Identifiers: chr10:g.101604050_101604053del (hg19) ; chr10:g.99844293_99844296del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844297_99844300del , CM000672.2:g.99844297_99844300del	GRCh38
NC_000010.10:g.101604054_101604057del , CM000672.1:g.101604054_101604057del	GRCh37
NC_000010.9:g.101594044_101594047del	NCBI36
NG_011798.1:g.66592_66595del
NG_011798.2:g.66700_66703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3844-25_3844-22del MANE Select	ENSP00000497274.1:n.3844-25_3844-22del
ENST00000649459.1:n.192-25_192-22del
ENST00000370449.8:c.3844-25_3844-22del	ENSP00000359478.4:n.3844-25_3844-22del
NM_000392.4:c.3844-25_3844-22del	NP_000383.1:n.3844-25_3844-22del
XM_006717630.2:c.3148-25_3148-22del	XP_006717693.1:n.3148-25_3148-22del
XR_945604.1:n.4033-25_4033-22del
XR_945605.1:n.3908-25_3908-22del
NM_000392.5:c.3844-25_3844-22del MANE Select	NP_000383.2:n.3844-25_3844-22del
XM_006717630.3:c.3148-25_3148-22del	XP_006717693.1:n.3148-25_3148-22del
XR_945604.3:n.4087-25_4087-22del
XR_945605.3:n.3960-25_3960-22del