Canonical Allele Identifier: CA14657514

Gene: BORCS8 BORCS8-MEF2B

Linked Data

• dbSNP Id: rs8100480
• gnomAD v2: 19-19299079-C-T
• gnomAD v3: 19-19188270-C-T
• gnomAD v4: 19-19188270-C-T
• MyVariant Identifiers: chr19:g.19299079C>T (hg19) ; chr19:g.19188270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19188270C>T , CM000681.2:g.19188270C>T	GRCh38
NC_000019.9:g.19299079C>T , CM000681.1:g.19299079C>T	GRCh37
NC_000019.8:g.19160079C>T	NCBI36
NG_007432.1:g.1072C>T , LRG_102:g.1072C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000462790.8:c.38-1265G>A (BORCS8) MANE Select	ENSP00000425864.1:n.38-1265G>A
ENST00000354191.8:c.38-1265G>A (BORCS8-MEF2B)	ENSP00000457957.1:n.38-1265G>A
ENST00000444486.7:c.-217+3811G>A (BORCS8-MEF2B)	ENSP00000390762.2:n.-217+3811G>A
ENST00000462498.1:n.511+3811G>A (BORCS8)
ENST00000462790.7:c.38-1265G>A (BORCS8)	ENSP00000425864.1:n.38-1265G>A
ENST00000477565.3:c.38-1265G>A (BORCS8)	ENSP00000424833.1:n.38-1265G>A
ENST00000488252.6:c.38-1265G>A (BORCS8)	ENSP00000467744.1:n.38-1265G>A
ENST00000494489.6:n.60-1265G>A (BORCS8)
ENST00000514819.7:c.-90+3811G>A (BORCS8-MEF2B)	ENSP00000454967.3:n.-90+3811G>A
ENST00000585679.1:c.-90+3811G>A (BORCS8)	ENSP00000475370.1:n.-90+3811G>A
ENST00000602438.1:n.68-1265G>A (BORCS8-MEF2B)
ENST00000602689.1:c.38-1265G>A (BORCS8-MEF2B)	ENSP00000473369.1:n.38-1265G>A
ENST00000602804.5:c.38-1265G>A (BORCS8-MEF2B)	ENSP00000473577.1:n.38-1265G>A
ENST00000630940.2:c.38-1265G>A (BORCS8-MEF2B)	ENSP00000486975.1:n.38-1265G>A
NM_001145783.1:c.38-1265G>A (BORCS8)	NP_001139255.1:n.38-1265G>A
NM_001145784.1:c.38-1265G>A (BORCS8)	NP_001139256.1:n.38-1265G>A
NM_005919.3:c.-217+3811G>A (BORCS8-MEF2B)	NP_005910.1:n.-217+3811G>A
NR_027307.1:n.512-1265G>A (BORCS8-MEF2B)
NR_027308.1:n.512-1265G>A (BORCS8-MEF2B)
NM_001145784.2:c.38-1265G>A (BORCS8) MANE Select	NP_001139256.1:n.38-1265G>A
NM_001145783.2:c.38-1265G>A (BORCS8)	NP_001139255.1:n.38-1265G>A
NM_005919.4:c.-217+3811G>A (BORCS8-MEF2B)	NP_005910.1:n.-217+3811G>A
NR_027307.2:n.73-1265G>A (BORCS8-MEF2B)
NR_027308.2:n.73-1265G>A (BORCS8-MEF2B)