Canonical Allele Identifier: CA449866958

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164348-G-T
• MyVariant Identifiers: chr6:g.33132125G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164348G>T , CM000668.2:g.33164348G>T	GRCh38
NC_000006.11:g.33132125G>T , CM000668.1:g.33132125G>T	GRCh37
NC_000006.10:g.33240103G>T	NCBI36
NG_011589.1:g.33121C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.795C>A
ENST00000341947.7:c.4989C>A MANE Select	ENSP00000339915.2:p.Pro1663=
ENST00000341947.6:c.4989C>A	ENSP00000339915.2:p.Pro1663=
ENST00000361917.5:c.4668C>A	ENSP00000355123.1:p.Pro1556=
ENST00000374708.8:c.4731C>A	ENSP00000363840.4:p.Pro1577=
ENST00000477772.1:n.779C>A
NM_080679.2:c.4668C>A	NP_542410.2:p.Pro1556=
NM_080680.2:c.4989C>A	NP_542411.2:p.Pro1663=
NM_080681.2:c.4731C>A	NP_542412.2:p.Pro1577=
XM_011514298.1:c.4143C>A	XP_011512600.1:p.Pro1381=
XM_011514299.1:c.4275C>A	XP_011512601.1:p.Pro1425=
XM_011514300.1:c.4095C>A	XP_011512602.1:p.Pro1365=
XM_011514301.1:c.4032C>A	XP_011512603.1:p.Pro1344=
XM_011514302.1:c.3876C>A	XP_011512604.1:p.Pro1292=
XM_011514299.2:c.4275C>A	XP_011512601.1:p.Pro1425=
XM_011514300.2:c.4095C>A	XP_011512602.1:p.Pro1365=
XM_011514302.2:c.3876C>A	XP_011512604.1:p.Pro1292=
XM_017010250.1:c.4989C>A	XP_016865739.1:p.Pro1663=
XM_017010251.2:c.3807C>A	XP_016865740.1:p.Pro1269=
NM_080680.3:c.4989C>A MANE Select	NP_542411.2:p.Pro1663=
NM_080681.3:c.4731C>A	NP_542412.2:p.Pro1577=
NM_080679.3:c.4668C>A	NP_542410.2:p.Pro1556=