Canonical Allele Identifier: CA571943499

Gene: TTLL2

Linked Data

• dbSNP Id: rs1178084582
• gnomAD v2: 6-167755043-AAGC-A
• gnomAD v4: 6-167341555-AAGC-A
• MyVariant Identifiers: chr6:g.167755044_167755046del (hg19) ; chr6:g.167341556_167341558del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341558_167341560del , CM000668.2:g.167341558_167341560del	GRCh38
NC_000006.11:g.167755046_167755048del , CM000668.1:g.167755046_167755048del	GRCh37
NC_000006.10:g.167675036_167675038del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1658_1660del MANE Select	ENSP00000239587.5:p.Ala553del
ENST00000649884.1:c.1439_1441del	ENSP00000497040.1:p.Ala480del
ENST00000239587.9:c.1658_1660del	ENSP00000239587.5:p.Ala553del
ENST00000515138.1:c.1658_1660del	ENSP00000424130.1:p.Ala553del
NM_031949.4:c.1658_1660del	NP_114155.4:p.Ala553del
XM_006715572.2:c.1439_1441del	XP_006715635.1:p.Ala480del
XM_006715572.4:c.1439_1441del	XP_006715635.1:p.Ala480del
NM_031949.5:c.1658_1660del MANE Select	NP_114155.4:p.Ala553del