Canonical Allele Identifier: CA346751549

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48694243-T-A
• MyVariant Identifiers: chr2:g.48921382T>A (hg19) ; chr2:g.48694243T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48694243T>A , CM000664.2:g.48694243T>A	GRCh38
NC_000002.11:g.48921382T>A , CM000664.1:g.48921382T>A	GRCh37
NC_000002.10:g.48774886T>A	NCBI36
NG_008193.1:g.66499A>T
NG_033050.1:g.169319T>A
NG_008193.2:g.66499A>T
NG_033050.2:g.169319T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.928A>T (LHCGR) MANE Select	ENSP00000294954.6:p.Lys310Ter
ENST00000294954.11:c.928A>T (LHCGR)	ENSP00000294954.6:p.Lys310Ter
ENST00000401907.5:c.928A>T (LHCGR)	ENSP00000385406.1:p.Lys310Ter
ENST00000402114.6:c.3441+22563T>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+22563T>A
ENST00000403273.5:c.928A>T (LHCGR)	ENSP00000385847.1:p.Lys310Ter
ENST00000405626.5:c.866+4372A>T (LHCGR)	ENSP00000386033.1:n.866+4372A>T
ENST00000508440.1:c.276+22563T>A (GTF2A1L)	ENSP00000421474.1:n.276+22563T>A
ENST00000602369.3:c.*201A>T	ENSP00000473498.1:n.*201A>T
NM_000233.3:c.928A>T (LHCGR)	NP_000224.2:p.Lys310Ter
NM_001198593.1:c.3441+22563T>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+22563T>A
XM_005264309.2:c.-13A>T (LHCGR)	XP_005264366.1:n.-13A>T
XM_011532828.1:c.853A>T (LHCGR)	XP_011531130.1:p.Lys285Ter
XM_011532829.1:c.667A>T (LHCGR)	XP_011531131.1:p.Lys223Ter
XM_011532830.1:c.606-5394A>T (LHCGR)	XP_011531132.1:n.606-5394A>T
XM_011532831.1:c.292A>T (LHCGR)	XP_011531133.1:p.Lys98Ter
XM_005264309.3:c.-13A>T (LHCGR)	XP_005264366.1:n.-13A>T
XM_017004089.1:c.673A>T (LHCGR)	XP_016859578.1:p.Lys225Ter
XM_017004090.1:c.292A>T (LHCGR)	XP_016859579.1:p.Lys98Ter
NM_000233.4:c.928A>T (LHCGR) MANE Select	NP_000224.2:p.Lys310Ter
NM_001198593.2:c.3441+22563T>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+22563T>A