Canonical Allele Identifier: CA201196

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 194471
• ClinVar RCV Id: RCV000174845 ; RCV000991170 ; RCV003965261
• dbSNP Id: rs146405172
• ExAC: 10:101571360 G / A
• gnomAD v2: 10-101571360-G-A
• gnomAD v3: 10-99811603-G-A
• gnomAD v4: 10-99811603-G-A
• MyVariant Identifiers: chr10:g.101571360G>A (hg19) ; chr10:g.99811603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99811603G>A , CM000672.2:g.99811603G>A	GRCh38
NC_000010.10:g.101571360G>A , CM000672.1:g.101571360G>A	GRCh37
NC_000010.9:g.101561350G>A	NCBI36
NG_011798.1:g.33898G>A
NG_011798.2:g.34006G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.1967+1G>A MANE Select	ENSP00000497274.1:n.1967+1G>A
ENST00000370449.8:c.1967+1G>A	ENSP00000359478.4:n.1967+1G>A
NM_000392.4:c.1967+1G>A	NP_000383.1:n.1967+1G>A
XM_006717630.2:c.1271+1G>A	XP_006717693.1:n.1271+1G>A
XM_006717631.2:c.1967+1G>A	XP_006717694.1:n.1967+1G>A
XM_011539291.1:c.1967+1G>A	XP_011537593.1:n.1967+1G>A
XR_945604.1:n.2156+1G>A
XR_945605.1:n.2158+1G>A
NM_000392.5:c.1967+1G>A MANE Select	NP_000383.2:n.1967+1G>A
XM_006717630.3:c.1271+1G>A	XP_006717693.1:n.1271+1G>A
XM_006717631.4:c.1967+1G>A	XP_006717694.1:n.1967+1G>A
XM_011539291.3:c.1967+1G>A	XP_011537593.1:n.1967+1G>A
XM_017015675.2:c.1967+1G>A	XP_016871164.1:n.1967+1G>A
XR_945604.3:n.2210+1G>A
XR_945605.3:n.2210+1G>A