Canonical Allele Identifier: CA365634795

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505238T>G , CM000668.2:g.129505238T>G	GRCh38
NC_000006.11:g.129826383T>G , CM000668.1:g.129826383T>G	GRCh37
NC_000006.10:g.129868076T>G	NCBI36
NG_008678.1:g.627098T>G , LRG_409:g.627098T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8586T>G MANE Select	NP_000417.3:p.Tyr2862Ter
ENST00000421865.3:c.8586T>G MANE Select	ENSP00000400365.2:p.Tyr2862Ter
NM_000426.3:c.8586T>G , LRG_409t1:c.8586T>G	NP_000417.2:p.Tyr2862Ter
NM_001079823.1:c.8574T>G	NP_001073291.1:p.Tyr2858Ter
NM_001079823.2:c.8574T>G	NP_001073291.2:p.Tyr2858Ter
ENST00000421865.2:c.8586T>G	ENSP00000400365.2:p.Tyr2862Ter
ENST00000494137.2:c.651T>G	ENSP00000510626.1:p.Tyr217Ter
ENST00000498257.6:c.651T>G	ENSP00000510533.1:p.Tyr217Ter
ENST00000617695.4:c.8574T>G	ENSP00000481744.1:p.Tyr2858Ter
ENST00000617695.5:c.8574T>G	ENSP00000481744.2:p.Tyr2858Ter
ENST00000618192.4:c.8583T>G	ENSP00000480802.1:p.Tyr2861Ter
ENST00000618192.5:c.8850T>G	ENSP00000480802.2:p.Tyr2950Ter
ENST00000688198.1:n.1564T>G
ENST00000688799.1:c.651T>G	ENSP00000508458.1:p.Tyr217Ter
ENST00000690858.1:n.1580T>G
ENST00000693461.1:n.923T>G
XM_005266981.2:c.8850T>G	XP_005267038.1:p.Tyr2950Ter
XM_005266981.3:c.8850T>G	XP_005267038.1:p.Tyr2950Ter
XM_005266982.2:c.8838T>G	XP_005267039.1:p.Tyr2946Ter
XM_005266982.3:c.8838T>G	XP_005267039.1:p.Tyr2946Ter
XM_011535820.1:c.8844T>G	XP_011534122.1:p.Tyr2948Ter
XM_011535820.2:c.8844T>G	XP_011534122.1:p.Tyr2948Ter
XM_017010851.2:c.8856T>G	XP_016866340.1:p.Tyr2952Ter
XM_017010852.1:c.6981T>G	XP_016866341.1:p.Tyr2327Ter
XR_001743859.1:n.3901-2447A>C
XR_001743860.1:n.1180-2447A>C
XR_001743861.1:n.1347-2447A>C
XR_001743863.1:n.883-2447A>C
XR_002956395.1:n.9132-2447A>C
XR_002956396.1:n.3127-2447A>C
XR_942984.1:n.1461-2447A>C
XR_942985.1:n.1325-2447A>C