Canonical Allele Identifier: CA531526181

Gene: TTC27

Linked Data

• dbSNP Id: rs1483606566
• gnomAD v2: 2-32865541-G-A
• gnomAD v3: 2-32640474-G-A
• gnomAD v4: 2-32640474-G-A
• MyVariant Identifiers: chr2:g.32865541G>A (hg19) ; chr2:g.32640474G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32640474G>A , CM000664.2:g.32640474G>A	GRCh38
NC_000002.11:g.32865541G>A , CM000664.1:g.32865541G>A	GRCh37
NC_000002.10:g.32719045G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317907.9:c.537+64G>A MANE Select	ENSP00000313953.4:n.537+64G>A
ENST00000647819.1:c.537+64G>A	ENSP00000497009.1:n.537+64G>A
ENST00000317907.8:c.537+64G>A	ENSP00000313953.4:n.537+64G>A
ENST00000454690.1:c.88+12094G>A	ENSP00000392883.1:n.88+12094G>A
NM_001193509.1:c.387+64G>A	NP_001180438.1:n.387+64G>A
NM_017735.4:c.537+64G>A	NP_060205.3:n.537+64G>A
XM_005264416.1:c.537+64G>A	XP_005264473.1:n.537+64G>A
XM_011532958.1:c.537+64G>A	XP_011531260.1:n.537+64G>A
XM_005264416.2:c.537+64G>A	XP_005264473.1:n.537+64G>A
XM_011532958.2:c.537+64G>A	XP_011531260.1:n.537+64G>A
XR_002959314.1:n.795+64G>A
NM_017735.5:c.537+64G>A MANE Select	NP_060205.3:n.537+64G>A
NM_001193509.2:c.387+64G>A	NP_001180438.1:n.387+64G>A