Canonical Allele Identifier: CA2678226374

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164903-G-GTTGCACAGAGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164908_33164909insCAGAGCTTTGCA , CM000668.2:g.33164908_33164909insCAGAGCTTTGCA	GRCh38
NC_000006.11:g.33132685_33132686insCAGAGCTTTGCA , CM000668.1:g.33132685_33132686insCAGAGCTTTGCA	GRCh37
NC_000006.10:g.33240663_33240664insCAGAGCTTTGCA	NCBI36
NG_011589.1:g.32565_32566insAGCTCTGTGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.617_618insAGCTCTGTGCAA
ENST00000341947.7:c.4811_4812insAGCTCTGTGCAA MANE Select	ENSP00000339915.2:p.Cys1603_Asn1604insLysAlaLeuCys
ENST00000341947.6:c.4811_4812insAGCTCTGTGCAA	ENSP00000339915.2:p.Cys1603_Asn1604insLysAlaLeuCys
ENST00000361917.5:c.4490_4491insAGCTCTGTGCAA	ENSP00000355123.1:p.Cys1496_Asn1497insLysAlaLeuCys
ENST00000374708.8:c.4553_4554insAGCTCTGTGCAA	ENSP00000363840.4:p.Cys1517_Asn1518insLysAlaLeuCys
ENST00000477772.1:n.601_602insAGCTCTGTGCAA
NM_080679.2:c.4490_4491insAGCTCTGTGCAA	NP_542410.2:p.Cys1496_Asn1497insLysAlaLeuCys
NM_080680.2:c.4811_4812insAGCTCTGTGCAA	NP_542411.2:p.Cys1603_Asn1604insLysAlaLeuCys
NM_080681.2:c.4553_4554insAGCTCTGTGCAA	NP_542412.2:p.Cys1517_Asn1518insLysAlaLeuCys
XM_011514298.1:c.3965_3966insAGCTCTGTGCAA	XP_011512600.1:p.Cys1321_Asn1322insLysAlaLeuCys
XM_011514299.1:c.4097_4098insAGCTCTGTGCAA	XP_011512601.1:p.Cys1365_Asn1366insLysAlaLeuCys
XM_011514300.1:c.3917_3918insAGCTCTGTGCAA	XP_011512602.1:p.Cys1305_Asn1306insLysAlaLeuCys
XM_011514301.1:c.3854_3855insAGCTCTGTGCAA	XP_011512603.1:p.Cys1284_Asn1285insLysAlaLeuCys
XM_011514302.1:c.3698_3699insAGCTCTGTGCAA	XP_011512604.1:p.Cys1232_Asn1233insLysAlaLeuCys
XM_011514299.2:c.4097_4098insAGCTCTGTGCAA	XP_011512601.1:p.Cys1365_Asn1366insLysAlaLeuCys
XM_011514300.2:c.3917_3918insAGCTCTGTGCAA	XP_011512602.1:p.Cys1305_Asn1306insLysAlaLeuCys
XM_011514302.2:c.3698_3699insAGCTCTGTGCAA	XP_011512604.1:p.Cys1232_Asn1233insLysAlaLeuCys
XM_017010250.1:c.4811_4812insAGCTCTGTGCAA	XP_016865739.1:p.Cys1603_Asn1604insLysAlaLeuCys
XM_017010251.2:c.3629_3630insAGCTCTGTGCAA	XP_016865740.1:p.Cys1209_Asn1210insLysAlaLeuCys
NM_080680.3:c.4811_4812insAGCTCTGTGCAA MANE Select	NP_542411.2:p.Cys1603_Asn1604insLysAlaLeuCys
NM_080681.3:c.4553_4554insAGCTCTGTGCAA	NP_542412.2:p.Cys1517_Asn1518insLysAlaLeuCys
NM_080679.3:c.4490_4491insAGCTCTGTGCAA	NP_542410.2:p.Cys1496_Asn1497insLysAlaLeuCys