Canonical Allele Identifier: CA2681271806

Gene: THBS2 THBS2-AS1

Linked Data

• gnomAD v4: 6-169229816-A-AATAAAACATGAAACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229816_169229817insATAAAACATGAAACTT , CM000668.2:g.169229816_169229817insATAAAACATGAAACTT	GRCh38
NC_000006.11:g.169629911_169629912insATAAAACATGAAACTT , CM000668.1:g.169629911_169629912insATAAAACATGAAACTT	GRCh37
NC_000006.10:g.169371836_169371837insATAAAACATGAAACTT	NCBI36
NG_022911.1:g.29226_29227insAAGTTTCATGTTTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2152-138_2152-137insAAGTTTCATGTTTTAT (THBS2) MANE Select	ENSP00000482784.1:n.2152-138_2152-137insAAGTTTCATGTTTTAT
ENST00000649844.1:c.2167-138_2167-137insAAGTTTCATGTTTTAT (THBS2)	ENSP00000497834.1:n.2167-138_2167-137insAAGTTTCATGTTTTAT
ENST00000676498.1:c.2152-138_2152-137insAAGTTTCATGTTTTAT (THBS2)	ENSP00000504820.1:n.2152-138_2152-137insAAGTTTCATGTTTTAT
ENST00000676628.1:c.1978-138_1978-137insAAGTTTCATGTTTTAT (THBS2)	ENSP00000504416.1:n.1978-138_1978-137insAAGTTTCATGTTTTAT
ENST00000676760.1:c.2152-138_2152-137insAAGTTTCATGTTTTAT (THBS2)	ENSP00000503020.1:n.2152-138_2152-137insAAGTTTCATGTTTTAT
ENST00000676869.1:c.1981-138_1981-137insAAGTTTCATGTTTTAT (THBS2)	ENSP00000504488.1:n.1981-138_1981-137insAAGTTTCATGTTTTAT
ENST00000676941.1:c.1261-138_1261-137insAAGTTTCATGTTTTAT (THBS2)	ENSP00000503028.1:n.1261-138_1261-137insAAGTTTCATGTTTTAT
ENST00000677429.1:c.*1518-138_*1518-137insAAGTTTCATGTTTTAT (THBS2)	ENSP00000503286.1:n.*1518-138_*1518-137insAAGTTTCATGTTTTAT
ENST00000678378.1:n.1537-138_1537-137insAAGTTTCATGTTTTAT (THBS2)
ENST00000366787.7:c.2152-138_2152-137insAAGTTTCATGTTTTAT (THBS2)	ENSP00000355751.3:n.2152-138_2152-137insAAGTTTCATGTTTTAT
ENST00000617924.4:c.2152-138_2152-137insAAGTTTCATGTTTTAT (THBS2)	ENSP00000482784.1:n.2152-138_2152-137insAAGTTTCATGTTTTAT
NM_003247.3:c.2152-138_2152-137insAAGTTTCATGTTTTAT (THBS2)	NP_003238.2:n.2152-138_2152-137insAAGTTTCATGTTTTAT
XR_943307.1:n.682-9409_682-9408insATAAAACATGAAACTT (THBS2-AS1)
NR_134621.1:n.682-9409_682-9408insATAAAACATGAAACTT (THBS2-AS1)
NM_003247.4:c.2152-138_2152-137insAAGTTTCATGTTTTAT (THBS2)	NP_003238.2:n.2152-138_2152-137insAAGTTTCATGTTTTAT
NM_001381939.1:c.1978-138_1978-137insAAGTTTCATGTTTTAT (THBS2)	NP_001368868.1:n.1978-138_1978-137insAAGTTTCATGTTTTAT
NM_001381942.1:c.1921-138_1921-137insAAGTTTCATGTTTTAT (THBS2)	NP_001368871.1:n.1921-138_1921-137insAAGTTTCATGTTTTAT
NM_003247.5:c.2152-138_2152-137insAAGTTTCATGTTTTAT (THBS2) MANE Select	NP_003238.2:n.2152-138_2152-137insAAGTTTCATGTTTTAT
NR_167744.1:n.2297-138_2297-137insAAGTTTCATGTTTTAT (THBS2)
NR_167745.1:n.2426-138_2426-137insAAGTTTCATGTTTTAT (THBS2)