Canonical Allele Identifier: CA378116837

Gene: ABCC2

Linked Data

• dbSNP Id: rs1317740127
• gnomAD v2: 10-101577185-C-G
• gnomAD v4: 10-99817428-C-G
• MyVariant Identifiers: chr10:g.101577185C>G (hg19) ; chr10:g.99817428C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99817428C>G , CM000672.2:g.99817428C>G	GRCh38
NC_000010.10:g.101577185C>G , CM000672.1:g.101577185C>G	GRCh37
NC_000010.9:g.101567175C>G	NCBI36
NG_011798.1:g.39723C>G
NG_011798.2:g.39831C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2215C>G MANE Select	ENSP00000497274.1:p.Leu739Val
ENST00000370449.8:c.2215C>G	ENSP00000359478.4:p.Leu739Val
NM_000392.4:c.2215C>G	NP_000383.1:p.Leu739Val
XM_006717630.2:c.1519C>G	XP_006717693.1:p.Leu507Val
XM_006717631.2:c.2215C>G	XP_006717694.1:p.Leu739Val
XM_011539291.1:c.2215C>G	XP_011537593.1:p.Leu739Val
XR_945604.1:n.2404C>G
XR_945605.1:n.2406C>G
NM_000392.5:c.2215C>G MANE Select	NP_000383.2:p.Leu739Val
XM_006717630.3:c.1519C>G	XP_006717693.1:p.Leu507Val
XM_006717631.4:c.2215C>G	XP_006717694.1:p.Leu739Val
XM_011539291.3:c.2215C>G	XP_011537593.1:p.Leu739Val
XM_017015675.2:c.2215C>G	XP_016871164.1:p.Leu739Val
XR_945604.3:n.2458C>G
XR_945605.3:n.2458C>G