Canonical Allele Identifier: CA246861

Gene: LAMA2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503230G>T , CM000668.2:g.129503230G>T	GRCh38
NC_000006.11:g.129824375G>T , CM000668.1:g.129824375G>T	GRCh37
NC_000006.10:g.129866068G>T	NCBI36
NG_008678.1:g.625090G>T , LRG_409:g.625090G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.562G>T	ENSP00000510626.1:p.Asp188Tyr
ENST00000498257.6:c.562G>T	ENSP00000510533.1:p.Asp188Tyr
ENST00000617695.5:c.8485G>T	ENSP00000481744.2:p.Asp2829Tyr
ENST00000618192.5:c.8761G>T	ENSP00000480802.2:p.Asp2921Tyr
ENST00000688198.1:n.1475G>T
ENST00000688799.1:c.562G>T	ENSP00000508458.1:p.Asp188Tyr
ENST00000690858.1:n.1491G>T
ENST00000693461.1:n.834G>T
ENST00000421865.3:c.8497G>T MANE Select	ENSP00000400365.2:p.Asp2833Tyr
ENST00000421865.2:c.8497G>T	ENSP00000400365.2:p.Asp2833Tyr
ENST00000617695.4:c.8485G>T	ENSP00000481744.1:p.Asp2829Tyr
ENST00000618192.4:c.8494G>T	ENSP00000480802.1:p.Asp2832Tyr
NM_000426.3:c.8497G>T , LRG_409t1:c.8497G>T	NP_000417.2:p.Asp2833Tyr
NM_001079823.1:c.8485G>T	NP_001073291.1:p.Asp2829Tyr
XM_005266981.2:c.8761G>T	XP_005267038.1:p.Asp2921Tyr
XM_005266982.2:c.8749G>T	XP_005267039.1:p.Asp2917Tyr
XM_011535820.1:c.8755G>T	XP_011534122.1:p.Asp2919Tyr
XR_942984.1:n.1461-439C>A
XR_942985.1:n.1325-439C>A
XM_005266981.3:c.8761G>T	XP_005267038.1:p.Asp2921Tyr
XM_005266982.3:c.8749G>T	XP_005267039.1:p.Asp2917Tyr
XM_011535820.2:c.8755G>T	XP_011534122.1:p.Asp2919Tyr
XM_017010851.2:c.8767G>T	XP_016866340.1:p.Asp2923Tyr
XM_017010852.1:c.6892G>T	XP_016866341.1:p.Asp2298Tyr
XR_001743859.1:n.3901-439C>A
XR_001743860.1:n.1180-439C>A
XR_001743861.1:n.1347-439C>A
XR_001743863.1:n.883-439C>A
XR_002956395.1:n.9132-439C>A
XR_002956396.1:n.3127-439C>A
NM_000426.4:c.8497G>T MANE Select	NP_000417.3:p.Asp2833Tyr
NM_001079823.2:c.8485G>T	NP_001073291.2:p.Asp2829Tyr